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109 relations: Acne, Allele, Amblyopia, Amniocentesis, Anticipation (genetics), Anticonvulsant, Anxiety disorder, Arbaclofen placarbil, Ataxia, Attention deficit hyperactivity disorder, Atypical antipsychotic, Autism, Autism spectrum, Behavioral Neuroscience (journal), Behaviour therapy, Behavioural Brain Research, Chorionic villus sampling, Chromosomal fragile site, Cluttering, Cytogenetics, Deletion (genetics), Dementia, Dendrite, Dendritic spine, Dipraglurant, Dopamine, Epileptic seizure, Executive functions, Extrapyramidal symptoms, Female, Fenobam, Fight-or-flight response, Five prime untranslated region, Flat feet, FMR1, Focal seizure, Fragile X-associated tremor/ataxia syndrome, Gamma-Aminobutyric acid, Gene, Genetic counseling, Genetic disorder, Genetic testing, Hypotonia, Intellectual disability, Intelligence quotient, Intrapersonal communication, Journal of Neurology, Neurosurgery, and Psychiatry, Julia Bell, Learning disability, Long-term depression, ..., Long-term potentiation, Macroorchidism, Male, Mavoglurant, Medical genetics, Meiosis, Menopause, Messenger RNA, Metabotropic glutamate receptor 1, Metabotropic glutamate receptor 5, Methylation, Minocycline, Missense mutation, Model organism, Mood disorder, Mutation, Neuron, Neuroplasticity, Newburyport, Massachusetts, Obsessive–compulsive disorder, Olfaction, Otitis media, Pediatrics, Penetrance, Perseveration, Physical therapy, PLOS One, Polymerase chain reaction, Premature ovarian failure, Promoter (genetics), Protruding ear, Psychiatry, Psychoticism, Randomized controlled trial, Receptor antagonist, Selective serotonin reuptake inhibitor, Sensitivity and specificity, Sensory integration therapy, Sherman paradox, Single molecule real time sequencing, Sinusitis, Social anxiety, Somatization, Southern blot, Special education, Speech-language pathology, Stereotypy, Stimulant, Strabismus, Synapse, Tardive dyskinesia, The Scientific World Journal, Therapy, Tremor, Trinucleotide repeat disorder, Working memory, X chromosome, X-inactivation, X-linked dominant inheritance. Expand index (59 more) »
Acne
Acne, also known as acne vulgaris, is a long-term skin disease that occurs when hair follicles are clogged with dead skin cells and oil from the skin.
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Allele
An allele is a variant form of a given gene.
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Amblyopia
Amblyopia, also called lazy eye, is a disorder of sight due to the eye and brain not working well together.
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Amniocentesis
Amniocentesis (also referred to as amniotic fluid test or AFT) is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections, and also for sex determination, in which a small amount of amniotic fluid, which contains fetal tissues, is sampled from the amniotic sac surrounding a developing fetus, and then the fetal DNA is examined for genetic abnormalities.
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Anticipation (genetics)
In genetics, anticipation is a phenomenon whereby as a genetic disorder is passed on to the next generation, the symptoms of the genetic disorder become apparent at an earlier age with each generation.
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Anticonvulsant
Anticonvulsants (also commonly known as antiepileptic drugs or as antiseizure drugs) are a diverse group of pharmacological agents used in the treatment of epileptic seizures.
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Anxiety disorder
Anxiety disorders are a group of mental disorders characterized by significant feelings of anxiety and fear.
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Arbaclofen placarbil
Arbaclofen placarbil (also known as XP19986) is a prodrug of R-baclofen.
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Ataxia
Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that includes gait abnormality.
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Attention deficit hyperactivity disorder
Attention-deficit hyperactivity disorder (ADHD) is a mental disorder of the neurodevelopmental type.
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Atypical antipsychotic
The atypical antipsychotics (AAP; also known as second generation antipsychotics (SGAs)) are a group of antipsychotic drugs (antipsychotic drugs in general are also known as major tranquilizers and neuroleptics, although the latter is usually reserved for the typical antipsychotics) used to treat psychiatric conditions.
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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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Autism spectrum
Autism spectrum, also known as autism spectrum disorder (ASD), is a range of conditions classified as neurodevelopmental disorders.
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Behavioral Neuroscience (journal)
Behavioral Neuroscience is a bimonthly peer-reviewed scientific journal published by the American Psychological Association.
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Behaviour therapy
Behaviour therapy is a broad term referring to clinical psychotherapy that uses techniques derived from behaviourism.
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Behavioural Brain Research
Behavioural Brain Research is a peer-reviewed scientific journal published by Elsevier.
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Chorionic villus sampling
Chorionic villus sampling (CVS), sometimes called "chorionic villous sampling" (as "villous" is the adjectival form of the word "villus"), is a form of prenatal diagnosis to determine chromosomal or genetic disorders in the fetus.
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Chromosomal fragile site
A chromosomal fragile site is a specific heritable point on a chromosome that tends to form a gap or constriction and may tend to break when the cell is exposed to partial replication stress.
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Cluttering
Cluttering (also called tachyphemia or tachyphrasia) is a speech and communication disorder characterized by a rapid rate of speech, erratic rhythm, and poor syntax or grammar, making speech difficult to understand.
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Cytogenetics
Cytogenetics is a branch of genetics that is concerned with how the chromosomes relate to cell behaviour, particularly to their behaviour during mitosis and meiosis.
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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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Dementia
Dementia is a broad category of brain diseases that cause a long-term and often gradual decrease in the ability to think and remember that is great enough to affect a person's daily functioning.
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Dendrite
Dendrites (from Greek δένδρον déndron, "tree"), also dendrons, are branched protoplasmic extensions of a nerve cell that propagate the electrochemical stimulation received from other neural cells to the cell body, or soma, of the neuron from which the dendrites project.
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Dendritic spine
A dendritic spine (or spine) is a small membranous protrusion from a neuron's dendrite that typically receives input from a single axon at the synapse.
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Dipraglurant
Dipraglurant (INN) (code name ADX-48621) is a negative allosteric modulator of the mGlu5 receptor which is under development by Addex Therapeutics for the treatment of Parkinson's disease levodopa-induced dyskinesia (PD-LID).
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Dopamine
Dopamine (DA, a contraction of 3,4-dihydroxyphenethylamine) is an organic chemical of the catecholamine and phenethylamine families that plays several important roles in the brain and body.
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Epileptic seizure
An epileptic seizure is a brief episode of signs or symptoms due to abnormally excessive or synchronous neuronal activity in the brain.
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Executive functions
Executive functions (collectively referred to as executive function and cognitive control) are a set of cognitive processes that are necessary for the cognitive control of behavior: selecting and successfully monitoring behaviors that facilitate the attainment of chosen goals.
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Extrapyramidal symptoms
Extrapyramidal symptoms (EPS), also known as extrapyramidal side effects (EPSE), are drug-induced movement disorders that include acute and tardive symptoms.
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Female
Female (♀) is the sex of an organism, or a part of an organism, that produces non-mobile ova (egg cells).
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Fenobam
Fenobam is an imidazole derivative developed by McNeil Laboratories in the late 1970s as a novel anxiolytic drug with an at-the-time-unidentified molecular target in the brain.
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Fight-or-flight response
The fight-or-flight response (also called hyperarousal, or the acute stress response) is a physiological reaction that occurs in response to a perceived harmful event, attack, or threat to survival.
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Five prime untranslated region
The 5′ untranslated region (5′ UTR) (also known as a leader sequence or leader RNA) is the region of an mRNA that is directly upstream from the initiation codon.
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Flat feet
Flat feet (also called pes planus or fallen arches) is a postural deformity in which the arches of the foot collapse, with the entire sole of the foot coming into complete or near-complete contact with the ground.
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FMR1
FMR1 (fragile X mental retardation 1) is a human gene that codes for a protein called fragile X mental retardation protein, or FMRP.
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Focal seizure
Focal seizures (also called partial seizures and localized seizures) are seizures which affect initially only one hemisphere of the brain.
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Fragile X-associated tremor/ataxia syndrome
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with male premutation carriers of Fragile X syndrome (FXS) over the age of 50.
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Gamma-Aminobutyric acid
gamma-Aminobutyric acid, or γ-aminobutyric acid, or GABA, is the chief inhibitory neurotransmitter in the mammalian central nervous system.
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Gene
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
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Genetic counseling
Genetic counseling is the process by which the patients or relatives at risk of an inherited disorder (or may be carrying a child at risk) are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning.
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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 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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Hypotonia
Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength.
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Intellectual disability
Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning.
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Intelligence quotient
An intelligence quotient (IQ) is a total score derived from several standardized tests designed to assess human intelligence.
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Intrapersonal communication
Intrapersonal communication is a communicator's internal use of language or thought.
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Journal of Neurology, Neurosurgery, and Psychiatry
The Journal of Neurology, Neurosurgery, and Psychiatry is a monthly peer-reviewed medical journal published by the BMJ Group.
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Julia Bell
Julia Bell (28 January 1879 – 26 April 1979) was a pioneering English human geneticist.
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Learning disability
Learning disability is a classification that includes several areas of functioning in which a person has difficulty learning in a typical manner, usually caused by an unknown factor or factors.
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Long-term depression
Long-term depression (LTD), in neurophysiology, is an activity-dependent reduction in the efficacy of neuronal synapses lasting hours or longer following a long patterned stimulus.
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Long-term potentiation
In neuroscience, long-term potentiation (LTP) is a persistent strengthening of synapses based on recent patterns of activity.
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Macroorchidism
Macroorchidism is a disorder found in males where a subject has abnormally large testes.
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Male
A male (♂) organism is the physiological sex that produces sperm.
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Mavoglurant
Mavoglurant (developmental code name AFQ-056) is an experimental drug candidate for the treatment of fragile X syndrome and other conditions which has been discontinued.
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Medical genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.
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Meiosis
Meiosis (from Greek μείωσις, meiosis, which means lessening) is a specialized type of cell division that reduces the chromosome number by half, creating four haploid cells, each genetically distinct from the parent cell that gave rise to them.
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Menopause
Menopause, also known as the climacteric, is the time in most women's lives when menstrual periods stop permanently, and they are no longer able to bear children.
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Messenger RNA
Messenger RNA (mRNA) is a large family of RNA molecules that convey genetic information from DNA to the ribosome, where they specify the amino acid sequence of the protein products of gene expression.
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Metabotropic glutamate receptor 1
The glutamate receptor, metabotropic 1, also known as GRM1, is a human gene which encodes the metabotropic glutamate receptor 1 (mGluR1) protein.
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Metabotropic glutamate receptor 5
Metabotropic glutamate receptor 5 is a G protein-coupled receptor that in humans is encoded by the GRM5 gene.
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Methylation
In the chemical sciences, methylation denotes the addition of a methyl group on a substrate, or the substitution of an atom (or group) by a methyl group.
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Minocycline
Minocycline is a broad-spectrum tetracycline antibiotic, and has a broader spectrum than the other members of the group.
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Missense mutation
In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid.
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Model organism
A model organism is a non-human species that is extensively studied to understand particular biological phenomena, with the expectation that discoveries made in the organism model will provide insight into the workings of other organisms.
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Mood disorder
Mood disorder, also known as mood (affective) disorders, is a group of conditions where a disturbance in the person's mood is the main underlying feature.
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Mutation
In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.
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Neuron
A neuron, also known as a neurone (British spelling) and nerve cell, is an electrically excitable cell that receives, processes, and transmits information through electrical and chemical signals.
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Neuroplasticity
Neuroplasticity, also known as brain plasticity and neural plasticity, is the ability of the brain to change throughout an individual's life, e.g., brain activity associated with a given function can be transferred to a different location, the proportion of grey matter can change, and synapses may strengthen or weaken over time.
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Newburyport, Massachusetts
Newburyport is a small coastal, scenic, and historic city in Essex County, Massachusetts, United States, northeast of Boston.
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Obsessive–compulsive disorder
Obsessive–compulsive disorder (OCD) is a mental disorder where people feel the need to check things repeatedly, perform certain routines repeatedly (called "rituals"), or have certain thoughts repeatedly (called "obsessions").
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Olfaction
Olfaction is a chemoreception that forms the sense of smell.
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Otitis media
Otitis media is a group of inflammatory diseases of the middle ear.
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Pediatrics
Pediatrics (also spelled paediatrics or pædiatrics) is the branch of medicine that involves the medical care of infants, children, and adolescents.
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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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Perseveration
Perseveration according to psychology, psychiatry, and speech-language pathology, is the repetition of a particular response (such as a word, phrase, or gesture) regardless of the absence or cessation of a stimulus.
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Physical therapy
Physical therapy (PT), also known as physiotherapy, is one of the allied health professions that, by using mechanical force and movements (bio-mechanics or kinesiology), manual therapy, exercise therapy, and electrotherapy, remediates impairments and promotes mobility and function.
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PLOS One
PLOS One (stylized PLOS ONE, and formerly PLoS ONE) is a peer-reviewed open access scientific journal published by the Public Library of Science (PLOS) since 2006.
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Polymerase chain reaction
Polymerase chain reaction (PCR) is a technique used in molecular biology to amplify a single copy or a few copies of a segment of DNA across several orders of magnitude, generating thousands to millions of copies of a particular DNA sequence.
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Premature ovarian failure
Premature ovarian failure (POF) is the loss of function of the ovaries before age 40.
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Promoter (genetics)
In genetics, a promoter is a region of DNA that initiates transcription of a particular gene.
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Protruding ear
Prominent ear, otapostasis or bat ear is an abnormally protruding human ear.
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Psychiatry
Psychiatry is the medical specialty devoted to the diagnosis, prevention and treatment of mental disorders.
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Psychoticism
Psychoticism is one of the three traits used by the psychologist Hans Eysenck in his P–E–N model (psychoticism, extraversion and neuroticism) model of personality.
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Randomized controlled trial
A randomized controlled trial (or randomized control trial; RCT) is a type of scientific (often medical) experiment which aims to reduce bias when testing a new treatment.
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Receptor antagonist
A receptor antagonist is a type of receptor ligand or drug that blocks or dampens a biological response by binding to and blocking a receptor rather than activating it like an agonist.
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Selective serotonin reuptake inhibitor
Selective serotonin reuptake inhibitors (SSRIs) are a class of drugs that are typically used as antidepressants in the treatment of major depressive disorder and anxiety disorders.
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Sensitivity and specificity
Sensitivity and specificity are statistical measures of the performance of a binary classification test, also known in statistics as a classification function.
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Sensory integration therapy
Sensory integration therapy is based on A. Jean Ayres' Sensory Integration Theory.
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Sherman paradox
The Sherman Paradox refers to an anomalous pattern of inheritance found in Fragile X syndrome.
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Single molecule real time sequencing
Single molecule real time sequencing (SMRT) is a parallelized single molecule DNA sequencing method.
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Sinusitis
Sinusitis, also known as a sinus infection or rhinosinusitis, is inflammation of the sinuses resulting in symptoms.
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Social anxiety
Social anxiety can be defined as nervousness in social situations.
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Somatization
Somatization is a tendency to experience and communicate psychological distress in the form of somatic symptoms and to seek medical help for them.
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Southern blot
A Southern blot is a method used in molecular biology for detection of a specific DNA sequence in DNA samples.
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Special education
Special education (also known as special needs education, aided education, exceptional education or Special Ed) is the practice of educating students with an IEP or Section 504 in a way that addresses their individual differences and needs.
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Speech-language pathology
Speech-language pathology is a field of expertise practiced by a clinician known as a speech-language pathologist (SLP), also sometimes referred to as a speech and language therapist or a speech therapist. SLP is considered a "related health profession" along with audiology, optometry, occupational therapy, clinical psychology, physical therapy, and others.
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Stereotypy
A stereotypy is a repetitive or ritualistic movement, posture, or utterance.
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Stimulant
Stimulants (also often referred to as psychostimulants or colloquially as uppers) is an overarching term that covers many drugs including those that increase activity of the central nervous system and the body, drugs that are pleasurable and invigorating, or drugs that have sympathomimetic effects.
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Strabismus
Strabismus, also known as crossed eyes, is a condition in which the eyes do not properly align with each other when looking at an object.
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Synapse
In the nervous system, a synapse is a structure that permits a neuron (or nerve cell) to pass an electrical or chemical signal to another neuron or to the target efferent cell.
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Tardive dyskinesia
Tardive dyskinesia (TD) is a disorder that results in involuntary, repetitive body movements.
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The Scientific World Journal
The Scientific World Journal (formerly, The ScientificWorldJournal) is a peer-reviewed scientific journal covering fields in the life sciences ranging from biomedicine to environmental sciences.
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Therapy
Therapy (often abbreviated tx, Tx, or Tx) is the attempted remediation of a health problem, usually following a diagnosis.
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Tremor
A tremor is an involuntary, somewhat rhythmic, muscle contraction and relaxation involving oscillations or twitching movements of one or more body parts.
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Trinucleotide repeat disorder
Trinucleotide repeat disorders (also known as trinucleotide repeat expansion disorders, triplet repeat expansion disorders or codon reiteration disorders) are a set of genetic disorders caused by trinucleotide repeat expansion, a kind of mutation where trinucleotide repeats in certain genes or intronsDavid W. Sanders & Clifford P. Brangwynne (2017), Nature, 546, 215–216 (08 June 2017) exceed the normal, stable threshold, which differs per gene.
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Working memory
Working memory is a cognitive system with a limited capacity that is responsible for temporarily holding information available for processing.
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X chromosome
The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females.
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X-inactivation
X-inactivation (also called lyonization) is a process by which one of the copies of the X chromosome present in female mammals is inactivated.
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X-linked dominant inheritance
X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
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Redirects here:
Escalante syndrome, Escalante's syndrome, FRAXA syndrome, Fra(X) syndrome, Fragile X, Fragile X Associated Primary Ovarian Insufficiency (FXPOI), Fragile X Syndrome, Fragile X syndrome type 1, Fragile X syndrome type 2, Fragile X syndrome type 3, Fragile X-associated primary ovarian insufficiency, Fragile x chromosome, Fragile x mental retardation protein, Fragile x syndrome, Fragile-X, Fragile-X Syndrome, Fragile-X syndrome, Fragilex, Marker X syndrome, Martin-Bell, Martin-Bell syndrome, Martin-Bell-Renpenning syndrome, Martin–Bell syndrome, X-linked mental retardation and macroorchidism.
References
[1] https://en.wikipedia.org/wiki/Fragile_X_syndrome
