Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes. - Wikidata - awgldk - TriplyDB

Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes.

Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes.

http://www.wikidata.org/entity/Q33965187

about

A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.Whole-exome sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating.Proteomics reveal Cochlin deposits associated with glaucomatous trabecular meshwork.The large Chinese family with Y-linked hearing loss revisited: clinical investigation.Cochlin in the eye: functional implications.A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review.Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9): a follow-up study of a family.

P2860

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P2860

Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes.

http://www.wikidata.org/entity/Q33965187

description

1999 nî lūn-bûn

@nan

1999 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

1999 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

1999年の論文

@ja

1999年論文

@yue

1999年論文

@zh-hant

1999年論文

@zh-hk

1999年論文

@zh-mo

1999年論文

@zh-tw

1999年论文

@wuu

name

Non-syndromal autosomal domina ...... characterization of genotypes.

@ast

Non-syndromal autosomal domina ...... characterization of genotypes.

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type

label

Non-syndromal autosomal domina ...... characterization of genotypes.

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Non-syndromal autosomal domina ...... characterization of genotypes.

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prefLabel

Non-syndromal autosomal domina ...... characterization of genotypes.

@ast

Non-syndromal autosomal domina ...... characterization of genotypes.

@en

P1433

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P356

03005369909090117

P1433

International Journal of Audiology

P1476

Non-syndromal autosomal domina ...... characterization of genotypes.

@en

P2093

Bom SJ

http://www.w3.org/2001/XMLSchema#string

Cremers CW

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Cremers FP

http://www.w3.org/2001/XMLSchema#string

Huygen PL

http://www.w3.org/2001/XMLSchema#string

Kunst HP

http://www.w3.org/2001/XMLSchema#string

P2860

Nonsyndromic hearing impairment is associated with a mutation in DFNA5

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous

The gene for an inherited form of deafness maps to chromosome 5q31

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment

High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene

Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p

P304

335-348

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10.3109/03005369909090117

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P433

5

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P478

33

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P577

1999-10-01T00:00:00Z

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P698

10890148

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