Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL
about
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlationCohesin: a critical chromatin organizer in mammalian gene regulationA new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome.SMC1A codon 496 mutations affect the cellular response to genotoxic treatments.
P2860
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P2860
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL
description
2010 nî lūn-bûn
@nan
2010 թուականին հրատարակուած գիտական յօդուած
@hyw
2010 թվականին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL
@ast
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL
@en
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL
@nl
type
label
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL
@ast
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL
@en
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL
@nl
prefLabel
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL
@ast
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL
@en
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL
@nl
P2093
P1476
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL
@en
P2093
Davut Pehlivan
Ellen K Brundage
James R Lupski
Magdalena Ratajska
Pawel Stankiewicz
Sau Wai Cheung
Zhilian Xia
P304
P356
10.1016/J.EJMG.2010.08.002
P407
P577
2010-01-01T00:00:00Z