A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred
about
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexesModifiers of hearing impairment in humans and mice.The role of bone morphogenetic protein 4 in inner ear development and function.A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from PakistanNon-syndromic autosomal-dominant deafness.c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family.A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss.Audiovestibular findings in a branchio-oto syndrome patient with a SIX1 mutation.Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.
P2860
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P2860
A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred
description
2000 nî lūn-bûn
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2000 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2000 թվականի ապրիլին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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name
A novel locus (DFNA23) for pre ...... -q22 in a Swiss German kindred
@ast
A novel locus (DFNA23) for pre ...... -q22 in a Swiss German kindred
@en
A novel locus (DFNA23) for pre ...... -q22 in a Swiss German kindred
@nl
type
label
A novel locus (DFNA23) for pre ...... -q22 in a Swiss German kindred
@ast
A novel locus (DFNA23) for pre ...... -q22 in a Swiss German kindred
@en
A novel locus (DFNA23) for pre ...... -q22 in a Swiss German kindred
@nl
prefLabel
A novel locus (DFNA23) for pre ...... -q22 in a Swiss German kindred
@ast
A novel locus (DFNA23) for pre ...... -q22 in a Swiss German kindred
@en
A novel locus (DFNA23) for pre ...... -q22 in a Swiss German kindred
@nl
P2093
P2860
P356
P1476
A novel locus (DFNA23) for pre ...... -q22 in a Swiss German kindred
@en
P2093
A A Schinzel
F M Häfner
T E Linder
T Spillmann
P2860
P304
P356
10.1086/302931
P407
P577
2000-04-24T00:00:00Z