Whole exome sequencing to identify genetic causes of short stature - Wikidata - awgldk - TriplyDB

Whole exome sequencing to identify genetic causes of short stature

Whole exome sequencing to identify genetic causes of short stature

http://www.wikidata.org/entity/Q34033624

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Insights from exome sequencing for endocrine disorders Genetic evaluation of short stature.Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency A Track Record on SHOX: From Basic Research to Complex Models and Therapy Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene.Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency.Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

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P2860

Whole exome sequencing to identify genetic causes of short stature

http://www.wikidata.org/entity/Q34033624

description

2014 nî lūn-bûn

@nan

2014 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հունիսին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Whole exome sequencing to identify genetic causes of short stature

@ast

Whole exome sequencing to identify genetic causes of short stature

@en

Whole exome sequencing to identify genetic causes of short stature

@nl

type

label

Whole exome sequencing to identify genetic causes of short stature

@ast

Whole exome sequencing to identify genetic causes of short stature

@en

Whole exome sequencing to identify genetic causes of short stature

@nl

prefLabel

Whole exome sequencing to identify genetic causes of short stature

@ast

Whole exome sequencing to identify genetic causes of short stature

@en

Whole exome sequencing to identify genetic causes of short stature

@nl

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P1433

Hormone Research

P1476

Whole exome sequencing to identify genetic causes of short stature

@en

P2093

Andrew Dauber

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

Emily C Walvoord

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

Jennifer E Moon

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

Joel N Hirschhorn

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

Michael H Guo

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

Timothy C Miller

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

Yiping Shen

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

P2860

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature

A map of human genome variation from population-scale sequencing

Rates and fitness consequences of new mutations in humans

A method and server for predicting damaging missense mutations

Integrative genomics viewer

Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Rare copy number variants are a common cause of short stature.

P304

44-52

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scholarly article

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10.1159/000360857

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1

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82

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2014-06-20T00:00:00Z

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24970356

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4130218

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