Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth
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The test characteristics of head circumference measurements for pathology associated with head enlargement: a retrospective cohort studyDistinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial featuresCopy number increase of HER-2 in colorectal cancers.Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1.Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.Molecular mechanisms of childhood overgrowth.
P2860
Q21260354-6BAEE1DE-30DA-4856-93F6-6CE65C7C82CBQ34050951-5E8D69C9-9461-4498-BA5C-B37102D7775BQ35682160-7709C49F-3F37-4D5C-AD09-DF0AFE9540EDQ36135873-8FBDD89B-BEE3-48C4-9AAD-BCD0BC874801Q36258805-2D62E4A0-3781-42B6-AF52-478019956B5DQ37578863-81A8CED4-E5C2-4862-9DC8-50650372C3ABQ38216932-E377861C-2E80-4718-B3B4-49C8032981F3Q47633430-8630056A-5010-4104-8E6E-872C222AD14A
P2860
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth
description
2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Array-based comparative genomi ...... ents with syndromic overgrowth
@ast
Array-based comparative genomi ...... ents with syndromic overgrowth
@en
Array-based comparative genomi ...... ents with syndromic overgrowth
@nl
type
label
Array-based comparative genomi ...... ents with syndromic overgrowth
@ast
Array-based comparative genomi ...... ents with syndromic overgrowth
@en
Array-based comparative genomi ...... ents with syndromic overgrowth
@nl
prefLabel
Array-based comparative genomi ...... ents with syndromic overgrowth
@ast
Array-based comparative genomi ...... ents with syndromic overgrowth
@en
Array-based comparative genomi ...... ents with syndromic overgrowth
@nl
P2093
P2860
P50
P356
P1476
Array-based comparative genomi ...... ents with syndromic overgrowth
@en
P2093
Catherine Turleau
Christine Coubes
Gwendoline Soler
Jean Soulier
Laurent Pasquier
Michel Vekemans
Nicole Morichon-Delvallez
Suzanne Chevallier
P2860
P2888
P304
P356
10.1038/EJHG.2009.162
P50
P577
2009-10-21T00:00:00Z