Accuracy of testing for Huntington's disease

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.

Molecular psychiatry·2016

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

Molecular psychiatry·2013

Role of common and rare APP DNA sequence variants in Alzheimer disease.

Neurology·2012

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

Neurology·2012

BDNF, relative preference, and reward circuitry responses to emotional communication.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics·2009

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Journal of medical genetics·2008

Universal gates from braiding and fusing anyons on quantum hardware.

Nature·2026

People use fast and flat simulation to reason about new games.

Nature·2026

Rising dust pollution across Europe in a changing climate.

Nature·2026

Ammonia pressure controls colloidal metal nitride synthesis in molten salts.

Nature·2026

Programming fracture resistance in metamaterials via elastic instabilities.

Nature·2026

Selectivity Emerges from Indiscriminate Photoreduction.

Nature·2026

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

Scientific reports·2026

First nationwide full-genome characterisation of human-derived Andes virus in Chile: a retrospective genomic epidemiology study.

The Lancet. Microbe·2026

Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China.

Frontiers in genetics·2026

A Novel FN1 Nucleotide Variant c.3051G>C (p.Trp1017Cys) in a Pediatric Patient with Fibronectin Glomerulopathy: Case Report and Literature Review.

Journal of clinical medicine·2026

The Novel HLA-DQA1*01:204 Allele Identified in Asian Female Donor by Next-Generation Sequencing.

HLA·2026

Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos Syndrome.

Molecular syndromology·2026

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Accuracy of testing for Huntington's disease

Related Concept Videos

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

Role of common and rare APP DNA sequence variants in Alzheimer disease.

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

BDNF, relative preference, and reward circuitry responses to emotional communication.

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Universal gates from braiding and fusing anyons on quantum hardware.

People use fast and flat simulation to reason about new games.

Rising dust pollution across Europe in a changing climate.

Ammonia pressure controls colloidal metal nitride synthesis in molten salts.

Programming fracture resistance in metamaterials via elastic instabilities.

Selectivity Emerges from Indiscriminate Photoreduction.

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

First nationwide full-genome characterisation of human-derived Andes virus in Chile: a retrospective genomic epidemiology study.

Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China.

A Novel FN1 Nucleotide Variant c.3051G>C (p.Trp1017Cys) in a Pediatric Patient with Fibronectin Glomerulopathy: Case Report and Literature Review.

The Novel HLA-DQA1*01:204 Allele Identified in Asian Female Donor by Next-Generation Sequencing.

Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos Syndrome.

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Accuracy of testing for Huntington's disease

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