Homozygosity mapping in outbred families with mental retardation. - Wikidata - wikimedia - TriplyDB

Homozygosity mapping in outbred families with mental retardation.

Homozygosity mapping in outbred families with mental retardation.

http://www.wikidata.org/entity/Q34873674

about

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.Genomic patterns of homozygosity in worldwide human populations Genome-wide estimates of inbreeding in unrelated individuals and their association with cognitive ability.SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control.Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.Making headway with genetic diagnostics of intellectual disabilities.Genetic studies in intellectual disability and related disorders.The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity.A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.Genetics of intellectual disability in consanguineous families.Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing.

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P2860

Homozygosity mapping in outbred families with mental retardation.

http://www.wikidata.org/entity/Q34873674

description

2011 nî lūn-bûn

@nan

2011 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2011 թվականի հունվարին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Homozygosity mapping in outbred families with mental retardation.

@ast

Homozygosity mapping in outbred families with mental retardation.

@en

Homozygosity mapping in outbred families with mental retardation.

@nl

type

label

Homozygosity mapping in outbred families with mental retardation.

@ast

Homozygosity mapping in outbred families with mental retardation.

@en

Homozygosity mapping in outbred families with mental retardation.

@nl

prefLabel

Homozygosity mapping in outbred families with mental retardation.

@ast

Homozygosity mapping in outbred families with mental retardation.

@en

Homozygosity mapping in outbred families with mental retardation.

@nl

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European Journal of Human Genetics

P1476

Homozygosity mapping in outbred families with mental retardation.

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P2093

Ad Geurts van Kessel

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

Arjan P M de Brouwer

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Bert B A de Vries

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Bregje W M van Bon

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Han G Brunner

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Hans van Bokhoven

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Janneke H M Schuurs-Hoeijmakers

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Jayne Y Hehir-Kwa

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Michèl A Willemsen

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Nicole de Leeuw

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P2860

A systematic approach to mapping recessive disease genes in individuals from outbred populations

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

PLINK: a tool set for whole-genome association and population-based linkage analyses

A simple salting out procedure for extracting DNA from human nucleated cells

Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics.

Genetics and pathophysiology of mental retardation.

The epidemiology of mental retardation: challenges and opportunities in the new millennium.

Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia.

Study of regions of extended homozygosity provides a powerful method to explore haplotype structure of human populations.

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597-601

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10.1038/EJHG.2010.167

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5

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19

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Adrianus Henricus Maria Geurts van Kessel

Joris A Veltman

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2011-01-19T00:00:00Z

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49768539

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21248743

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