about
Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach.A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes.A novel MED12 mutation associated with non-specific X-linked intellectual disability.Pancreatic developmental defect evaluated by celiac artery angiography in a patient with MODY5.Expanding the clinical picture of the MECP2 Duplication syndrome.Characteristics of rare and private deletions identified in phenotypically normal individuals.Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
P2860
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P2860
description
2014 nî lūn-bûn
@nan
2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին 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
Clinical impacts of genomic copy number gains at Xq28
@ast
Clinical impacts of genomic copy number gains at Xq28
@en
type
label
Clinical impacts of genomic copy number gains at Xq28
@ast
Clinical impacts of genomic copy number gains at Xq28
@en
prefLabel
Clinical impacts of genomic copy number gains at Xq28
@ast
Clinical impacts of genomic copy number gains at Xq28
@en
P2093
P2860
P356
P1476
Clinical impacts of genomic copy number gains at Xq28
@en
P2093
Katsumi Imai
Keiko Shimojima
Keiko Yanagihara
Kenji Yokochi
Nobuhiko Okamoto
Shino Shimada
Shinsaku Yoshitomi
P2860
P2888
P356
10.1038/HGV.2014.1
P577
2014-07-24T00:00:00Z
P5875
P6179
1042777124