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210 relations: Aalborg University Hospital, Achondroplasia, Acrania, Addenbrooke's Hospital, Addison Montgomery, Adoption detective, Adrenoleukodystrophy, Ahmad Teebi, Aicardi syndrome, Alan Edward Guttmacher, Albert Einstein College of Medicine, Alpha 1-antitrypsin deficiency, American College of Medical Genetics and Genomics, American Society of Human Genetics, Andrew Read, Andrew Wilkie (geneticist), Anencephaly, Aneuploidy, Angelman syndrome, Autism, Biological psychiatry, Birth defect, BRCA mutation, Broad Institute, Bruce R. Korf, Cat genetics, Charles Epstein (geneticist), Churchill Hospital, Clarke Fraser, Cleidocranial dysostosis, Colleges of Medicine of South Africa, Compound heterozygosity, Cri du chat syndrome, Crouzon syndrome, Cystic fibrosis, David Rimoin, David S Rosenblatt, David Sillence, David Velázquez Fernández, DECIPHER, Deletion (genetics), Denise Main, Diagnosis of Asperger syndrome, Diana W. Bianchi, DiGeorge syndrome, Diploid triploid mosaic, DNA profiling (disambiguation), Dorothy Trump, Douglas Kinsella, Down syndrome, ..., Duchenne muscular dystrophy, Dwarfism, Education in personalized medicine, Edwards syndrome, Ehlers–Danlos syndromes, Elaine Bearer, EMedicine, Emil Kakkis, Ethylin Wang Jabs, European Biotechnology Association, European Genetics Foundation, Fibrodysplasia ossificans progressiva, Fragile X syndrome, Frederick Bieber, Gareth Evans (geneticist), Gastroschisis, Genetic disorder, Genetic Epidemiology (journal), Genetic testing, Geneticist, Genetics, Genetics in Medicine, George William Gregory Bird, Glossary of genetics, Glucose-6-phosphate dehydrogenase deficiency, Gonçalo Abecasis, Haplogroup J (mtDNA), Harry Ostrer, Harvard T.H. Chan School of Public Health, Healthcare in Portugal, Herman Vanden Berghe, Hirschsprung's disease, History of Modern Biomedicine Research Group, Holoprosencephaly, Homosexuality, Human genetics, Hypospadias, Immunogenetics, Inova Health System, Instituto Nacional de Medicina Genómica, Internal medicine, Irwin McLean, Jaime Imitola, Jane Green (geneticist), Jeans for Genes, John Burn (geneticist), John Huizinga, Johns Hopkins School of Medicine, Journal of Medical Genetics, Katsumi Furitsu, Kåre Berg, Ketan J. Patel, King Edward Memorial Hospital for Women, Kinship analysis, Klinefelter syndrome, Laminopathy, Lee Willerman, Limb–mammary syndrome, List of Brown University people, List of geneticists, List of House characters, List of medical schools in Pakistan, List of medical specialty colleges in the United States, List of MeSH codes (H01), List of people considered father or mother of a scientific field, Lunenfeld-Tanenbaum Research Institute, Lynda Chin, Madge Macklin, Mahatma Gandhi Medical College & Research Institute, Mandeep R. Mehra, Maple syrup urine disease, Marfan syndrome, Mayana Zatz, Medicine, Medicine: Prep Manual for Undergraduates, Meena Upadhyaya, Michael R. Hayden, Microcephaly, Mitochondrial disease, Montreal Children's Hospital, Murray Feingold, Muscular dystrophy, Myhre syndrome, Myotonic dystrophy, Naomichi Matsumoto, Nathaniel C. Comfort, National Institute of Biomedical Genomics, Neva Haites, Ninewells Hospital, Noonan syndrome, Norio Niikawa, Nuria Lopez Bigas, Nussinov plots, Oliver Smithies, Osteogenesis imperfecta, Oswaldo Frota-Pessoa, Outline of genetics, P. Michael Conneally, Pardis Sabeti, Patau syndrome, Penetrance, Peter Riederer, Phenylketonuria, Philip Awadalla, Phylomedicine, PLOS Genetics, Polydactyly, Prader–Willi syndrome, Pretzel syndrome, Proband, Progeria, R. Ellen Magenis, Race and health, Residency (medicine), Rett syndrome, Richard Houlston, Rivka Carmi, Saeed Reza Ghaffari, Salvator Cupcea, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Seckel syndrome, Situs inversus, Specialty (medicine), Spinal muscular atrophy, St. Michael's Hospital (Bristol), Statistical genetics, Supernumerary nipple, Susan Smalley, Sverre Olaf Lie, Syndrome, Tay–Sachs disease, The Cyprus Institute of Neurology and Genetics, The Human Life Review, Thyroglossal cyst, Treacher Collins syndrome, Trinity Preparatory School, Triple X syndrome, Triploid syndrome, Tuberous sclerosis, Turner syndrome, University Children’s Hospital Basel, University of Bonn, University of Campinas School of Medical Sciences, University of Kufa, Uppsala University Hospital, Valeriy Zaporozhan, Victor A. McKusick, Vilnius University Hospital Santaros Klinikos, Vladimir Pavlovich Efroimson, Wendy Chung, Whole genome sequencing, Widukind Lenz, William A. Gahl, Williams syndrome, Wilson's disease, Wilson–Turner syndrome, Wladimir Wertelecki, XYY syndrome, Yosuán Crespo, 1932 in science. Expand index (160 more) »
Aalborg University Hospital
Aalborg University Hospital is the largest hospital in the North Denmark Region, Denmark.
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Achondroplasia
Achondroplasia is a genetic disorder that results in dwarfism.
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Acrania
Acrania is a rare congenital disorder that occurs in the human fetus in which the flat bones in the cranial vault are either completely or partially absent.
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Addenbrooke's Hospital
Addenbrooke's Hospital is an internationally renowned teaching hospital and research centre in Cambridge, England, with strong affiliations to the University of Cambridge.
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Addison Montgomery
Dr.
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Adoption detective
An adoption detective is an individual who researches biological and genetic connections between individuals.
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Adrenoleukodystrophy
Adrenoleukodystrophy is a disease linked to the X chromosome.
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Ahmad Teebi
Ahmad Said Teebi (أحمد سعيد طيبي) (22 July 1949 – 22 July 2010) was a Palestinian, born in Lebanon, clinical geneticist who studied and practiced in several countries, ending his career in Canada and the United States.
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Aicardi syndrome
Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms.
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Alan Edward Guttmacher
Alan Edward Guttmacher, M.D. (born 1949 in Baltimore, Maryland) was the director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), one of the 27 institutes and centers that comprise the National Institutes of Health (NIH).
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Albert Einstein College of Medicine
The Albert Einstein College of Medicine ("Einstein" for short), a joint entity between Montefiore Medical Center and Yeshiva University (until 2018), is a private, not-for-profit, sectarian medical school located in the Morris Park neighborhood of the Bronx in New York City.
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Alpha 1-antitrypsin deficiency
Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder that may result in lung disease or liver disease.
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American College of Medical Genetics and Genomics
The American College of Medical Genetics and Genomics (ACMG) is an organization composed of biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other health care professionals committed to the practice of medical genetics.
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American Society of Human Genetics
The American Society of Human Genetics (ASHG), founded in 1948, is the primary professional membership organization for specialists in human genetics worldwide.
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Andrew Read
Professor Andrew P. Read (born 1939) is a British medical geneticist.
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Andrew Wilkie (geneticist)
Andrew Oliver Mungo Wilkie (born 14 September 1959) FRS is a clinical geneticist who has been the Nuffield professor of Pathology at the University of Oxford since 2003.
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Anencephaly
Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during embryonic development.
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Aneuploidy
Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46.
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Angelman syndrome
Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system.
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Autism
Autism is a developmental disorder characterized by troubles with social interaction and communication and by restricted and repetitive behavior.
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Biological psychiatry
Biological psychiatry or biopsychiatry is an approach to psychiatry that aims to understand mental disorder in terms of the biological function of the nervous system.
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Birth defect
A birth defect, also known as a congenital disorder, is a condition present at birth regardless of its cause.
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BRCA mutation
A BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, which are tumour suppressor genes.
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Broad Institute
The Eli and Edythe L. Broad Institute of MIT and Harvard, often referred to as the Broad Institute, is a biomedical and genomic research center located in Cambridge, Massachusetts, United States.
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Bruce R. Korf
Bruce R. Korf is a medical geneticist, the director of the Heflin Center for Human Genetics and chairman of the Department of Genetics at the University of Alabama at Birmingham.
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Cat genetics
Cat genetics describes the study of inheritance as it occurs in domestic cats.
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Charles Epstein (geneticist)
Charles Joseph Epstein (September 3, 1933 – February 15, 2011) of Tiburon, California, was a geneticist who was severely injured in 1993 when he became a victim of a mail bomb attack by the Unabomber.
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Churchill Hospital
The Churchill Hospital is a teaching hospital in Oxford, England.
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Clarke Fraser
Frank Clarke Fraser, (29 March 1920 – 17 December 2014) was a Canadian medical geneticist.
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Cleidocranial dysostosis
Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth.
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Colleges of Medicine of South Africa
The Colleges of Medicine of South Africa (CMSA) is the custodian of the quality of medical care in South Africa.
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Compound heterozygosity
Compound heterozygosity in medical genetics is the condition of having two heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state.
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Cri du chat syndrome
Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p− syndrome (pronounced "five P minus") or Lejeune's syndrome, is a rare genetic disorder due to chromosome deletion on chromosome 5.
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Crouzon syndrome
Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome.
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Cystic fibrosis
Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine.
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David Rimoin
David Lawrence Rimoin (November 9, 1936 – May 27, 2012) was a Canadian American geneticist.
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David S Rosenblatt
David Rosenblatt, a Canadian Medical Geneticist, Paediatrician is a professor in the Departments of Human Genetics, Medicine, Pediatrics, and Biology at McGill University in Montreal, Quebec, where he was the Chairman of Department of Human Genetics from 2001-2013.
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David Sillence
David Sillence, AM is the foundation chair (Professor) of Medical Genetics in the University of Sydney.
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David Velázquez Fernández
David Velázquez Fernández is a Mexican surgeon and researcher attached to the Endocrine Surgery and Advanced Laparoscopy at the Department of Surgery of the Salvador Zubirán National Institute of Health Sciences and Nutrition and with the Clinic of Nutrition, Obesity and Metabolic Disorders at the ABC Medical Center.
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DECIPHER
DECIPHER is a web-based resource and database of genomic variation data from analysis of patient DNA.
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Deletion (genetics)
In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is lost during DNA replication.
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Denise Main
Denise Maillet Main is a leading AIDS activist and a preeminent doctor in the San Francisco Bay area.
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Diagnosis of Asperger syndrome
Several factors complicate the diagnosis of Asperger syndrome (AS), an autism spectrum disorder (ASD).
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Diana W. Bianchi
Diana W. Bianchi is an American medical geneticist and neonatologist noted for her research on fetal cell microchimerism and prenatal testing.
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DiGeorge syndrome
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22.
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Diploid triploid mosaic
Diploid-triploid mosaicism (DTM) is a chromosome disorder.
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DNA profiling (disambiguation)
DNA profiling or genetic profiling mainly refers to DNA profiling in forensics.
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Dorothy Trump
Dorothy Trump (24 January 1964 – 26 March 2013) was an English physician who specialised in clinical genetics.
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Douglas Kinsella
Thomas Douglas Kinsella, CM (15 February 1932 – 15 June 2004) was a Canadian medical doctor and expert on medical ethics and founder of Canada's National Council on Ethics in Human Research.
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Down syndrome
Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
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Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy.
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Dwarfism
Dwarfism, also known as short stature, occurs when an organism is extremely small.
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Education in personalized medicine
Personalized medicine involves medical treatments based on the characteristics of individual patients, including their medical history, family history, and genetics.
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Edwards syndrome
Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of all, or part of a third copy of chromosome 18.
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Ehlers–Danlos syndromes
Ehlers–Danlos syndromes (EDS) are a group of genetic connective tissue disorders.
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Elaine Bearer
Elaine L. Bearer is an American neuroscientist, pathologist and composer.
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EMedicine
eMedicine.com, Incorporated is an online clinical medical knowledge base founded in 1996 by two medical doctors, Scott Plantz and Jonathan Adler, and by Jeffrey Berezin, a computer engineer.
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Emil Kakkis
Emil Kakkis M.D. Ph.D. (born 1960) is an American medical geneticist known for his work to develop treatments for ultra rare disorders.
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Ethylin Wang Jabs
Ethylin Wang Jabs is a Chinese-American physician-scientist with expertise in medical genetics, pediatrics, and craniofacial biology.
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European Biotechnology Association
The European Biotechnology Association (European Biotechnology Thematic Network Association- EBTNA) is an organization founded in 1996 and since presents both academic and industrial projects that help to establish connections between the biotech industry and science.
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European Genetics Foundation
The European Genetics Foundation (EGF) is a non-profit organization, dedicated to the training of young geneticists active in medicine, to continuing education in genetics/genomics and to the promotion of public understanding of genetics.
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Fibrodysplasia ossificans progressiva
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare connective tissue disease.
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Fragile X syndrome
Fragile X syndrome (FXS) is a genetic disorder.
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Frederick Bieber
Frederick Robert Bieber (born February 9, 1950) is a Medical Geneticist at Brigham and Women's Hospital, a member of the Faculty of Medicine at Harvard University, and a Consultant at the Massachusetts General Hospital and the Children's Hospital Boston.
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Gareth Evans (geneticist)
Professor D. Gareth R. Evans (born May 1959) is a British medical geneticist.
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Gastroschisis
Gastroschisis is a birth defect in which the baby's intestines extend outside of the body through a hole next to the belly button.
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Genetic disorder
A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.
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Genetic Epidemiology (journal)
Genetic Epidemiology is a peer-reviewed medical journal for research on the genetic epidemiology of human traits in families and populations.
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Genetic testing
Genetic testing, also known as DNA testing, allows the determination of bloodlines and the genetic diagnosis of vulnerabilities to inherited diseases.
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Geneticist
A geneticist is a biologist who studies genetics, the science of genes, heredity, and variation of organisms.
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Genetics
Genetics is the study of genes, genetic variation, and heredity in living organisms.
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Genetics in Medicine
Genetics in Medicine is a monthly peer-reviewed medical journal covering medical genetics.
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George William Gregory Bird
George William Gregory Bird was a British medical doctor, academic, researcher and haematologist known for his expertise in the fields of blood transfusion and immunohaematology.
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Glossary of genetics
This is a glossary of terms and concepts commonly used in the study of genetics and related disciplines in biology.
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Glucose-6-phosphate dehydrogenase deficiency
Glucose-6-phosphate dehydrogenase deficiency (G6PDD) is an inborn error of metabolism that predisposes to red blood cell breakdown.
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Gonçalo Abecasis
Gonçalo Rocha Abecasis (born 1976) is a Portuguese American biomedical researcher at the University of Michigan and chair of the Department of Biostatistics in the School of Public Health.
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Haplogroup J (mtDNA)
Haplogroup J is a human mitochondrial DNA (mtDNA) haplogroup.
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Harry Ostrer
Harry Ostrer is a medical geneticist who investigates the genetic basis of common and rare disorders and, in the diagnostic laboratory, translates the findings of genetic discoveries into tests that can be used to identify people’s risks for having a disease prior to its occurrence or for predicting its outcome once it has occurred.
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Harvard T.H. Chan School of Public Health
The Harvard T.H. Chan School of Public Health (formerly Harvard School of Public Health) is the public health graduate school of Harvard University, located in the Longwood Medical Area of Boston, Massachusetts adjacent Harvard Medical School.
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Healthcare in Portugal
Healthcare in Portugal is provided through three coexisting systems: the National Health Service (Serviço Nacional de Saúde, SNS), special social health insurance schemes for certain professions (health subsystems) and voluntary private health insurance.
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Herman Vanden Berghe
Herman Vanden Berghe (Herman van den Berge) (born Overboelare, 12 June 1933, died Oud-Heverlee, 23 January 2017) was a Belgian pioneer in human genetics.
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Hirschsprung's disease
Hirschsprung's disease (HD or HSCR) is a birth defect in which nerves are missing from parts of the intestine.
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History of Modern Biomedicine Research Group
The History of Modern Biomedicine Research Group (HoMBRG) is an academic organisation specialising in recording and publishing the oral history of twentieth and twenty-first century biomedicine.
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Holoprosencephaly
Holoprosencephaly (HPE) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres.
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Homosexuality
Homosexuality is romantic attraction, sexual attraction or sexual behavior between members of the same sex or gender.
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Human genetics
Human genetics is the study of inheritance as it occurs in human beings.
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Hypospadias
Hypospadias is a congenital disorder of the urethra where the urinary opening is not at the usual location on the head of the penis.
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Immunogenetics
Immunogenetics or immungenetics is the branch of medical genetics that explores the relationship between the immune system and genetics.
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Inova Health System
Inova Health System is a non-profit health organization based in Falls Church, Virginia, near Washington, D.C. The system is a network of hospitals, outpatient services, assisted living and long-term care facilities, and healthcare centers.
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Instituto Nacional de Medicina Genómica
The National Institute of Genomic Medicine (INMEGEN for its name in Spanish, Instituto Nacional de Medicina Genómica) is one of Mexico's twelve national institutes under the Secretariat of Health.
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Internal medicine
Internal medicine or general medicine (in Commonwealth nations) is the medical specialty dealing with the prevention, diagnosis, and treatment of adult diseases.
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Irwin McLean
(William Henry) Irwin McLean (born 1963) FRS FRSE FMedSci is Professor of Human genetics, Head of the Division of Molecular Medicine and Scientific Director of the Centre for Dermatology and Genetic Medicine at the University of Dundee.
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Jaime Imitola
Jaime Imitola is a Neuroscientist, neuroimmunologist and stem cell researcher, known for his work on the impact of inflammation in the endogenous neural stem cell function and molecular programs, work that has contributed to the understanding of the neurodegeneration and the lack of repair in chronic neurological diseases including multiple sclerosis.
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Jane Green (geneticist)
Professor Jane S. Green PhD,, Hon FCCMG, FCAHS (born 1943) is a Canadian medical geneticist.
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Jeans for Genes
Jeans for Genes Day is a national fund-raiser held in Australia and the United Kingdom.
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John Burn (geneticist)
Professor Sir John Burn (born 6 February 1952) is a British Professor of Clinical Genetics at Newcastle University.
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John Huizinga
This article is about the Dutch geneticist.
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Johns Hopkins School of Medicine
The Johns Hopkins University School of Medicine (JHUSOM), located in Baltimore, Maryland, U.S.A. (founded in 1893) is the academic medical teaching and research arm of the Johns Hopkins University, founded in 1876.
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Journal of Medical Genetics
The Journal of Medical Genetics is a peer-reviewed medical journal focusing on human genetics.
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Katsumi Furitsu
has a doctorate in medical genetics and radiation biology from Japan's Osaka University and currently works in the genetics department of the Hyogo College of Medicine.
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Kåre Berg
Kåre Ingmar Berg (1 March 1932 – 24 January 2009) was a Norwegian MD, professor in medical genetics, physician-in-chief and well-cited researcher.
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Ketan J. Patel
Ketan Jayakrishna Patel is a scientist and tenured principal investigator at the Medical Research Council (MRC) Laboratory of Molecular Biology (LMB).
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King Edward Memorial Hospital for Women
King Edward Memorial Hospital for Women (KEMH) is a hospital located in Subiaco, Western Australia.
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Kinship analysis
Kinship analysis is any analysis that deals with kinship.
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Klinefelter syndrome
Klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes in males.
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Laminopathy
Laminopathies (lamino- + -opathy) are a group of rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina.
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Lee Willerman
Lee Willerman (26 July 1939 – 10 January 1997) was an American psychologist known for his work on behavioral genetics using twin studies.
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Limb–mammary syndrome
Limb–mammary syndrome is a cutaneous condition characterized by p63 mutations.
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List of Brown University people
The following is a partial list of notable Brown University people, known as Brunonians.
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List of geneticists
This is a list of people who have made notable contributions to genetics.
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List of House characters
This page is a comprehensive listing and detailing of the various characters who appear, from time to time, in the television series House.
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List of medical schools in Pakistan
In Pakistan, a medical school is more often referred to as a medical college.
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List of medical specialty colleges in the United States
This list of medical specialty colleges in the United States includes medical societies that represent board certified specialist physicians.
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List of MeSH codes (H01)
The following is a list of the "H" codes for MeSH.
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List of people considered father or mother of a scientific field
The following is a list of people who are considered a "father" or "mother" (or "founding father" or "founding mother") of a scientific field.
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Lunenfeld-Tanenbaum Research Institute
The Lunenfeld-Tanenbaum Research Institute is a medical research institute in Toronto, Ontario and part of the Sinai Health System.
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Lynda Chin
Lynda Chin is an American medical doctor.
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Madge Macklin
Madge Macklin (February 6, 1893 – March 4, 1962) was an American physician known for her work in the field of medical genetics, efforts to make genetics a part of medical curriculum, and participation in the eugenics movement.
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Mahatma Gandhi Medical College & Research Institute
Mahatma Gandhi Medical College and Research Institute (MGMCRI) is a medical college and hospital located in the Bahour taluk of the union territory of Puducherry, India.
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Mandeep R. Mehra
Mandeep R. Mehra (born December 3, 1964 in Delhi) is The William Harvey Distinguished Chair in Advanced Cardiovascular Medicine and a professor of medicine at Harvard Medical School and Medical Director of the Brigham Heart and Vascular Center in Boston, Massachusetts.
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Maple syrup urine disease
Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids.
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Marfan syndrome
Marfan syndrome (MFS) is a genetic disorder of the connective tissue.
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Mayana Zatz
Mayana Zatz (Tel Aviv, July 16, 1947) is a Brazilian reputed molecular biologist and geneticist.
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Medicine
Medicine is the science and practice of the diagnosis, treatment, and prevention of disease.
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Medicine: Prep Manual for Undergraduates
Medicine: Prep Manual for Undergraduates is a book.
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Meena Upadhyaya
Meena Upadhyaya is an Indian-born Welsh medical geneticist and an honorary professor at Cardiff University.
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Michael R. Hayden
Michael Hayden, is a Killam professor of Medical Genetics at the University of British Columbia and Canada Research Chair in Human Genetics and Molecular Medicine.
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Microcephaly
Microcephaly is a medical condition in which the brain does not develop properly resulting in a smaller than normal head.
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Mitochondrial disease
Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell.
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Montreal Children's Hospital
Montreal Children's Hospital (Hôpital de Montréal pour enfants) is a children's hospital in Montreal, Quebec, Canada.
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Murray Feingold
Murray Feingold (July 20, 1930 – July 17, 2015) was an American pediatrician, geneticist, and founder of the Feingold Center for Children in Waltham, Massachusetts.
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Muscular dystrophy
Muscular dystrophy (MD) is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time.
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Myhre syndrome
Myhre syndrome is a rare genetic disorder inherited in an autosomal dominant fashion.
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Myotonic dystrophy
Myotonic dystrophy is a long term genetic disorder that affects muscle function.
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Naomichi Matsumoto
is a Japanese physician and medical geneticist who identified several causative genes for human diseases, including Sotos syndrome (2002), Marfan syndrome type II (2004), Ohtahara syndrome (2008), West syndrome (2010), Microphthalmia with limb anomalies (2011), Autosomal-recessive cerebellar ataxias (2011), Hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC) (2011), Porencephaly (2012), and Coffin-Siris syndrome (2012).
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Nathaniel C. Comfort
Nathaniel Charles Comfort is an American historian specializing in the history of biology.
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National Institute of Biomedical Genomics
National Institute of Biomedical Genomics is a national level research institute for genomic medicine.
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Neva Haites
Professor Neva Haites OBE FRSE FMedSci is a prominent scientist and physician who investigates molecular genetics and diseases in humans and specialises in cancer genetics; she has more than 90 publications in genetics concerning inherited predisposition to cancer, retinitis pigmentosa, hereditary motor neuropathy and sensory neuropathy.
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Ninewells Hospital
Ninewells Hospital is a large teaching hospital, based on the western edge of Dundee, Scotland.
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Noonan syndrome
Noonan syndrome (NS) is a relatively common autosomal dominant congenital disorder and is named after Jacqueline Noonan, a pediatric cardiologist.
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Norio Niikawa
is a Japanese physician and medical geneticist who discovered an autosomal dominant disorder, Kabuki syndrome, also known as Niikawa-Kuroki syndrome.
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Nuria Lopez Bigas
Núria López-Bigas is a Spanish biologist and research professor with expertise in medical genetics, computational biology, and bioinformatics.
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Nussinov plots
RNA and tRNA generally has a complex two-dimensional structure.
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Oliver Smithies
Oliver Smithies (23 June 1925 – 10 January 2017) was a British-born American geneticist and physical biochemist.
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Osteogenesis imperfecta
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones.
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Oswaldo Frota-Pessoa
Oswaldo Frota-Pessoa (March 30, 1917 – March 24, 2010) was a noted Brazilian physician, biologist and geneticist.
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Outline of genetics
The following outline is provided as an overview of and topical guide to genetics: Genetics – science of genes, heredity, and variation in living organisms.
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P. Michael Conneally
P.
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Pardis Sabeti
Pardis C. Sabeti (پردیس ثابتی) (born December 25, 1975 in Tehran, Iran) is an Iranian-American computational biologist, medical geneticist and evolutionary geneticist, who developed a bioinformatic statistical method which identifies sections of the genome that have been subject to natural selection and an algorithm which explains the effects of genetics on the evolution of disease.
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Patau syndrome
Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13.
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Penetrance
Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype).
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Peter Riederer
Peter Riederer (born 21 March 1942) is a German neuroscientist with several thousands of citations and around 950 scientific writings.
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Phenylketonuria
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine.
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Philip Awadalla
Philip Awadalla is a professor of medical and population genetics at the Ontario Institute of Cancer Research, the Faculty of Medicine, University of Toronto, and the Department of Biochemistry, McGill University.
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Phylomedicine
Phylomedicine is an emerging discipline at the intersection of medicine, genomics, and evolution.
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PLOS Genetics
PLOS Genetics is an open access peer-reviewed genetics-focused journal established in 2005 by the non-profit organization Public Library of Science (PLOS).
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Polydactyly
Polydactyly or polydactylism, also known as hyperdactyly, is a congenital physical anomaly in humans and animals resulting in supernumerary fingers and/or toes.
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Prader–Willi syndrome
Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes.
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Pretzel syndrome
Pretzel syndrome is a rare disorder characterized by skeletal deformity, malformation of the brain (with accompanying seizures), electrolyte imbalances, and variable malformations of the heart and other organs.
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Proband
In medical genetics and other medical fields, a proband, proposito (male proband), or proposita (female proband) is a particular subject (person or animal) being studied or reported on.
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Progeria
Progeria is an extremely rare autosomal dominant genetic disorder in which symptoms resembling aspects of aging are manifested at a very early age.
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R. Ellen Magenis
R.
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Race and health
Race and health refers to the relationship between individual health and one's race and ethnicity.
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Residency (medicine)
Residency is a stage of graduate medical training.
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Rett syndrome
Rett syndrome (RTT) is a genetic brain disorder which typically becomes apparent after 6 to 18 months of age in females.
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Richard Houlston
Richard Somerset Houlston (born 10 July 1956) is a clinical geneticist and Professor of Molecular and Population Genetics at the Institute of Cancer Research in London.
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Rivka Carmi
Prof.
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Saeed Reza Ghaffari
Dr Saeed Reza Ghaffari (دکتر سعید رضا غفاری) is an Iranian scientist and physician born in 1962, Fasa, Iran.
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Salvator Cupcea
Salvator P. Cupcea (also known as Salvador Cupcea; August 8, 1908 – 1958) was a Romanian psychologist, physician, and political figure.
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Sanjay Gandhi Postgraduate Institute of Medical Sciences
Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS) is a medical Institute under State Legislature Act, located in Lucknow, Uttar Pradesh.
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Seckel syndrome
The Seckel syndrome or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow-Seckel dwarfism, and Bird-headed dwarf of Seckel) is an extremely rare congenital nanosomic disorder.
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Situs inversus
Situs inversus (also called situs transversus or oppositus) is a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions.
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Specialty (medicine)
A specialty, or speciality, in medicine is a branch of medical practice.
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Spinal muscular atrophy
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder characterised by loss of motor neurons and progressive muscle wasting, often leading to early death.
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St. Michael's Hospital (Bristol)
St Michael's Hospital is a maternity hospital in Bristol, England.
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Statistical genetics
Statistical genetics is a scientific field concerned with the development of statistical methods for drawing inferences from genetic data.
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Supernumerary nipple
A supernumerary nipple (also known as a third nipple, triple nipple, accessory nipple, polythelia or the related condition: polymastia) is an additional nipple occurring in mammals, including humans.
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Susan Smalley
Susan Smalley, Ph.D. is a behavioral geneticist, writer and activist.
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Sverre Olaf Lie
Sverre Olaf Lie (born 27 February 1938, Oslo) is a Norwegian pediatrician.
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Syndrome
A syndrome is a set of medical signs and symptoms that are correlated with each other and, often, with a particular disease or disorder.
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Tay–Sachs disease
Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord.
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The Cyprus Institute of Neurology and Genetics
The Cyprus Institute of Neurology and Genetics is a non-profit institution that was established in 1990.
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The Human Life Review
The Human Life Review is a quarterly journal published by the Human Life Foundation since 1975.
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Thyroglossal cyst
A thyroglossal cyst is a fibrous cyst that forms from a persistent thyroglossal duct.
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Treacher Collins syndrome
Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin.
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Trinity Preparatory School
Trinity Preparatory School of Florida is an independent college preparatory day-school for students in grades 6 to 12, located in Winter Park, a suburb of Orlando.
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Triple X syndrome
Triple X syndrome, also known as trisomy X and 47,XXX, is characterized by the presence of an extra X chromosome in each cell of a female.
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Triploid syndrome
Triploid syndrome, also called triploidy, is an extremely rare chromosomal disorder, in which a fetus has three copies of every chromosome instead of the normal two.
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Tuberous sclerosis
Tuberous sclerosis, or tuberous sclerosis complex (TSC), or epiloia (acronym of "epilepsy, low intelligence, adenoma sebaceum"), is a rare multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs, and skin.
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Turner syndrome
Turner syndrome (TS), also known as 45,X or 45,X0, is a condition in which a female is partly or completely missing an X chromosome.
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University Children’s Hospital Basel
"The University Children’s Hospital Basel (UKBB) is an independent, university-based centre of competence for paediatric and juvenile medicine, as well as for teaching and research." The UKBB exists since 1999.
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University of Bonn
The University of Bonn (Rheinische Friedrich-Wilhelms-Universität Bonn) is a public research university located in Bonn, Germany.
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University of Campinas School of Medical Sciences
The School of Medical Sciences (Portuguese: Faculdade de Ciências Médicas, FCM) is a college of the State University of Campinas, located in Campinas, São Paulo, Brazil.
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University of Kufa
The University of Kufa is an Iraqi university located in Najaf, Iraq.
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Uppsala University Hospital
Uppsala University Hospital (Akademiska sjukhuset, often referred to colloquially as "Akademiska" or "Ackis") in Uppsala, Sweden is a teaching hospital for the Uppsala University Faculty of Medicine and the Nursing School.
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Valeriy Zaporozhan
Valeriy Zaporozhan is Ukrainian researcher, former Rector of Odessa State Medical University (Ukraine) since 1994.
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Victor A. McKusick
Victor Almon McKusick (October 21, 1921 – July 22, 2008) was an American internist and medical geneticist, and Professor of Medicine at the Johns Hopkins Hospital, Baltimore.
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Vilnius University Hospital Santaros Klinikos
Vilnius University Hospital Santaros Klinikos (Vilniaus Universiteto ligoninė Santaros klinikos, formerly known as Santariškių Klinikos) in Vilnius, Lithuania is a teaching hospital of the Vilnius University Faculty of Medicine.
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Vladimir Pavlovich Efroimson
Vladimir Pavlovich Efroimson (Владимир Павлович Эфроимсон; 21 November 1908, Moscow – 21 July 1989, Moscow) was one of the most prominent Soviet geneticists, a former student of Nikolai Koltsov, who was among the geneticists who had to struggle against the persecution of geneticists in the Soviet Union.
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Wendy Chung
Wendy Chung is an American clinical and molecular geneticist and physician.
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Whole genome sequencing
Whole genome sequencing (also known as WGS, full genome sequencing, complete genome sequencing, or entire genome sequencing) is the process of determining the complete DNA sequence of an organism's genome at a single time.
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Widukind Lenz
Widukind Lenz (4 February 1919, Eichenau – 25 February 1995) was a distinguished German pediatrician, medical geneticist and dysmorphologist who was among the first to recognize the thalidomide syndrome in 1961 and alert the world to the dangers of limb and other malformations due to the mother's exposure to this drug during pregnancy.
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William A. Gahl
William A. Gahl is the current Clinical Director of the National Human Genome Research Institute at the NIH main campus in Bethesda, MD.
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Williams syndrome
Williams syndrome (WS) is a genetic disorder that affects many parts of the body.
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Wilson's disease
Wilson's disease is a genetic disorder in which copper builds up in the body.
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Wilson–Turner syndrome
Wilson-Turner syndrome (WTS), also known as mental retardation X linked syndromic 6 (MRXS6), and mental retardation X linked with gynecomastia and obesity is a congenital condition characterized by intellectual disability and associated with childhood-onset obesity.
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Wladimir Wertelecki
Wladimir Wertelecki (born 1936 in Rivne, Ukraine, at the time Poland) is an Emeritus Professor and a former Chairman of the Medical Genetics Department at the University of South Alabama, US, and currently the Director of OMNI-Net Ukraine, a not-for-profit international organization conducting population based monitoring of congenital anomalies in many areas of Ukraine impacted by Chernobyl ionizing radiation.
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XYY syndrome
XYY syndrome is a genetic condition in which a male has an extra Y chromosome.
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Yosuán Crespo
Yosuán Crespo (born November 24, 1984 in Havana, Cuba) is a Cuban businessman and computer scientist.
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1932 in science
The year 1932 in science and technology involved some significant events, listed below.
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Redirects here:
Clinical Genetics, Clinical genetics, Genetic medicine, Genomic medicine, Medical Genetics, Medical geneticist.
References
[1] https://en.wikipedia.org/wiki/Medical_genetics
