De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
about
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosusNovel genetic causes for cerebral visual impairmentDVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.Molecular subtyping and improved treatment of neurodevelopmental disease.De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delayThe genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.Diagnostic value of exome and whole genome sequencing in craniosynostosis.Clinical application of whole-exome sequencing across clinical indications.Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome.Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.HP1 proteins safeguard embryonic stem cells
P2860
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P2860
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
description
2014 nî lūn-bûn
@nan
2014 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մայիսին 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
De novo truncating mutations i ...... y, hypotonia, and sleep apnea.
@ast
De novo truncating mutations i ...... y, hypotonia, and sleep apnea.
@en
type
label
De novo truncating mutations i ...... y, hypotonia, and sleep apnea.
@ast
De novo truncating mutations i ...... y, hypotonia, and sleep apnea.
@en
prefLabel
De novo truncating mutations i ...... y, hypotonia, and sleep apnea.
@ast
De novo truncating mutations i ...... y, hypotonia, and sleep apnea.
@en
P2093
P2860
P50
P1476
De novo truncating mutations i ...... y, hypotonia, and sleep apnea.
@en
P2093
Angela E Scheuerle
Arthur L Beaudet
Christine M Eng
Donna M Muzny
Elaine H Zackai
Eric A Boerwinkle
James R Lupski
Jill V Hunter
Joy Yaplito-Lee
P2860
P304
P356
10.1016/J.AJHG.2014.04.006
P407
P577
2014-05-01T00:00:00Z