The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.
about
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNPHigh-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestryGenetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patientsGenetic insights into the functional elements of language.On the spot: very local chromosomal rearrangements.Detection and interpretation of genomic structural variation in health and disease.Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome.The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.Molecular and phenotypic characterization of atypical Williams-Beuren syndrome.Quantitative linkage for autism spectrum disorders symptoms in attention-deficit/hyperactivity disorder: significant locus on chromosome 7q11.A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23
P2860
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P2860
The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
The contribution of CLIP2 hapl ...... the Williams-Beuren syndrome.
@ast
The contribution of CLIP2 hapl ...... the Williams-Beuren syndrome.
@en
type
label
The contribution of CLIP2 hapl ...... the Williams-Beuren syndrome.
@ast
The contribution of CLIP2 hapl ...... the Williams-Beuren syndrome.
@en
prefLabel
The contribution of CLIP2 hapl ...... the Williams-Beuren syndrome.
@ast
The contribution of CLIP2 hapl ...... the Williams-Beuren syndrome.
@en
P2860
P1476
The contribution of CLIP2 hapl ...... f the Williams-Beuren syndrome
@en
P2093
Edwin Reyniers
Nathalie Van der Aa
P2860
P304
P356
10.1016/J.AJHG.2012.04.020
P407
P577
2012-05-17T00:00:00Z