about
Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A)Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees.Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome.Early-onset urological disorders due to Wolfram syndrome: A case of neonatal onset.Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.Multiple fractures and impaired bone metabolism in Wolfram syndrome: a case report.Be aware of Wolfram syndrome when examining ataxic patients.WFS1 mutations in hearing-impaired children.Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype.TMTC2 variant associated with sensorineural hearing loss and auditory neuropathy spectrum disorder in a family dyad.Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies.Longitudinal hearing loss in Wolfram syndrome.Cochlear Proteins Associated with Noise-induced Hearing Loss: An Update
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012 թուականին հրատարակուած գիտական յօդուած
@hyw
2012 թվականին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Wolfram syndrome: new mutations, different phenotype
@ast
Wolfram syndrome: new mutations, different phenotype
@en
Wolfram syndrome: new mutations, different phenotype
@nl
type
label
Wolfram syndrome: new mutations, different phenotype
@ast
Wolfram syndrome: new mutations, different phenotype
@en
Wolfram syndrome: new mutations, different phenotype
@nl
prefLabel
Wolfram syndrome: new mutations, different phenotype
@ast
Wolfram syndrome: new mutations, different phenotype
@en
Wolfram syndrome: new mutations, different phenotype
@nl
P2093
P2860
P50
P3181
P1433
P1476
Wolfram syndrome: new mutations, different phenotype
@en
P2093
Alessandro Salina
Chiara Russo
Concetta Aloi
Giuseppe d'Annunzio
Katia Perri
Ramona Tallone
Renata Lorini
P2860
P304
P3181
P356
10.1371/JOURNAL.PONE.0029150
P407
P577
2012-01-01T00:00:00Z