Novel genetic causes for cerebral visual impairment - Wikidata - awgldk - TriplyDB

Novel genetic causes for cerebral visual impairment

Novel genetic causes for cerebral visual impairment

http://www.wikidata.org/entity/Q34493173

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Human GRIN2B variants in neurodevelopmental disorders The cytoplasmic peptide:N-glycanase (NGLY1) - Structure, expression and cellular functions NRIP/DCAF6 stabilizes the androgen receptor protein by displacing DDB2 from the CUL4A-DDB1 E3 ligase complex in prostate cancer.Traumatic Brain Injury Induces Genome-Wide Transcriptomic, Methylomic, and Network Perturbations in Brain and Blood Predicting Neurological Disorders.Association of gene coding variation and resting metabolic rate in a multi-ethnic sample of children and adults.Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome.De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome.

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Novel genetic causes for cerebral visual impairment

http://www.wikidata.org/entity/Q34493173

description

2015 nî lūn-bûn

@nan

2015 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

name

Novel genetic causes for cerebral visual impairment

@ast

Novel genetic causes for cerebral visual impairment

@en

Novel genetic causes for cerebral visual impairment

@nl

type

label

Novel genetic causes for cerebral visual impairment

@ast

Novel genetic causes for cerebral visual impairment

@en

Novel genetic causes for cerebral visual impairment

@nl

prefLabel

Novel genetic causes for cerebral visual impairment

@ast

Novel genetic causes for cerebral visual impairment

@en

Novel genetic causes for cerebral visual impairment

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European Journal of Human Genetics

P1476

Novel genetic causes for cerebral visual impairment

@en

P2093

Bert B A de Vries

http://www.w3.org/2001/XMLSchema#string

Daniëlle G M Bosch

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F Nienke Boonstra

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Frans P M Cremers

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James R Lupski

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Nicole de Leeuw

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Rolph Pfundt

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Shalini Jhangiani

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Willy M Nillesen

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P2860

The InterPro protein families database: the classification resource after 15 years

Histone deacetylase-associating Atrophin proteins are nuclear receptor corepressors

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

De novo mutations in epileptic encephalopathies

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions

KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum

Cerebral visual impairment in children

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

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660-665

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scholarly article

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10.1038/EJHG.2015.186

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5

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24

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Christian Gilissen

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2015-09-09T00:00:00Z

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26350515

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4930090

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