about
The origin and antiquity of syphilis revisited: An Appraisal of Old World pre-Columbian evidence for treponemal infectionMutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.Identification of three novel NHS mutations in families with Nance-Horan syndromeIdentification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencingRefinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.Odontomas and supernumerary teeth: is there a common origin?The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.Molecular genetics of supernumerary tooth formation.Dishevelled binds the Discs large 'Hook' domain to activate GukHolder-dependent spindle positioning in Drosophila.A novel locus for X-linked congenital cataract on Xq24.Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoformDistribution of gene mutations in sporadic congenital cataract in a Han Chinese population.X-linked cataract and Nance-Horan syndrome are allelic disorders.Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.Classification of microphthalmos and coloboma.Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families.Ocular anomalies in a herd of Exmoor ponies in Canada.Congenital diaphragmatic hernia as a part of 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.Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).Nance-Horan syndrome-The oral perspective on a rare disease.NHS Gene Mutations in Ashkenazi Jewish Families with Nance-Horan Syndrome.Syndromes with supernumerary teeth.
P2860
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P2860
description
1990 nî lūn-bûn
@nan
1990 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
The Nance-Horan syndrome
@ast
The Nance-Horan syndrome
@en
The Nance-Horan syndrome
@en-gb
The Nance-Horan syndrome
@nl
type
label
The Nance-Horan syndrome
@ast
The Nance-Horan syndrome
@en
The Nance-Horan syndrome
@en-gb
The Nance-Horan syndrome
@nl
prefLabel
The Nance-Horan syndrome
@ast
The Nance-Horan syndrome
@en
The Nance-Horan syndrome
@en-gb
The Nance-Horan syndrome
@nl
P2093
P2860
P356
P1476
The Nance-Horan syndrome
@en
P2093
P2860
P356
10.1136/JMG.27.10.632
P407
P577
1990-10-01T00:00:00Z