New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
about
Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature reviewWhen flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in childrenUsing Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.Difficulties in diagnosing Marfan syndrome using current FBN1 databases.WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.
P2860
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
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
New population-based exome dat ...... sociated with Marfan syndrome.
@ast
New population-based exome dat ...... sociated with Marfan syndrome.
@en
type
label
New population-based exome dat ...... sociated with Marfan syndrome.
@ast
New population-based exome dat ...... sociated with Marfan syndrome.
@en
prefLabel
New population-based exome dat ...... sociated with Marfan syndrome.
@ast
New population-based exome dat ...... sociated with Marfan syndrome.
@en
P2093
P2860
P50
P356
P1433
P1476
New population-based exome dat ...... sociated with Marfan syndrome.
@en
P2093
Bjarke Risgaard
Javad Jabbari
Jonas B Nielsen
Ren-Qiang Yang
Reza Jabbari
Stig Haunsø
Xiao-Shu Cheng
P2860
P2888
P356
10.1186/1471-2156-15-74
P577
2014-06-18T00:00:00Z
P5875
P6179
1030372012