The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.
about
Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencingA non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approachScreening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil.Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment.Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?A novel small deletion in the NHS gene associated with Nance-Horan syndrome.Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome.Nance-Horan syndrome-The oral perspective on a rare disease.NHS Gene Mutations in Ashkenazi Jewish Families with Nance-Horan Syndrome.
P2860
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P2860
The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.
description
2011 nî lūn-bûn
@nan
2011 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
The first missense mutation of ...... ome including cardiac anomaly.
@ast
The first missense mutation of ...... ome including cardiac anomaly.
@en
type
label
The first missense mutation of ...... ome including cardiac anomaly.
@ast
The first missense mutation of ...... ome including cardiac anomaly.
@en
prefLabel
The first missense mutation of ...... ome including cardiac anomaly.
@ast
The first missense mutation of ...... ome including cardiac anomaly.
@en
P2093
P2860
P356
P1476
The first missense mutation of ...... ome including cardiac anomaly.
@en
P2093
Habiba Chaabouni Bouhamed
Imen Rejeb
Lamia Ben Jemaa
Manèl Chograni
Myriam Châabouni
P2860
P2888
P304
P356
10.1038/EJHG.2011.52
P577
2011-05-11T00:00:00Z