Whole exome sequencing to identify genetic causes of short stature
about
Insights from exome sequencing for endocrine disordersGenetic evaluation of short stature.Idiopathic short stature due to novel heterozygous mutation of the aggrecan geneSevere Short Stature in Two Siblings as the Presenting Sign of ACP5 DeficiencyA Track Record on SHOX: From Basic Research to Complex Models and TherapyShort 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.
P2860
Q28088772-1EEE8AF6-792A-4CD4-A0F5-A96C0D37722BQ34130975-8202E10C-92AC-41E8-83AA-832A984A13D3Q35850399-DE88C67D-5934-48C4-A6D1-B2B8C1C45A7DQ36963661-A518259B-3234-40AE-9664-4672EBC600AFQ37147401-802385F3-CD12-4CE2-A789-6F8C2980D0BEQ37604747-EE2338A7-8342-4EB1-8A2E-E215E7979849Q38844094-CB16A738-BAFB-40ED-900C-AF3D29E8CEEFQ48255773-6130E495-F96B-4037-83BC-84072F8B281DQ50090303-E2227C26-ACA3-4070-9573-643EA1C7164CQ55261689-81858156-C536-4667-8DAA-4E9B2640AAFC
P2860
Whole exome sequencing to identify genetic causes of short stature
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
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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
P2093
P2860
P356
P1433
P1476
Whole exome sequencing to identify genetic causes of short stature
@en
P2093
Andrew Dauber
Emily C Walvoord
Jennifer E Moon
Joel N Hirschhorn
Michael H Guo
Timothy C Miller
Yiping Shen
P2860
P356
10.1159/000360857
P407
P577
2014-06-20T00:00:00Z