Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.

Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.

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http://www.wikidata.org/entity/Q44042904
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked familyA novel homozygous mutation in the EC1/EC2 interaction domain of the gap junction complex connexon 26 leads to profound hearing impairmentGJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.GJB2 and MTRNR1 contributions in children with hearing impairment from Northern Cameroon.EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss.Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss.
P2860

Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.

Item
http://www.wikidata.org/entity/Q44042904
description
2009 nî lūn-bûn
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2009年の論文
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2009年学术文章
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2009年学术文章
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2009年学术文章
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2009年學術文章
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Analysis of the GJB2 and GJB6 ...... s, and degree of hearing loss.
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Analysis of the GJB2 and GJB6 ...... s, and degree of hearing loss.
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Analysis of the GJB2 and GJB6 ...... s, and degree of hearing loss.
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Analysis of the GJB2 and GJB6 ...... s, and degree of hearing loss.
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Analysis of the GJB2 and GJB6 ...... s, and degree of hearing loss.
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Analysis of the GJB2 and GJB6 ...... s, and degree of hearing loss.
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Analysis of the GJB2 and GJB6 ...... s, and degree of hearing loss.
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P2093
P304
P31
P356
P433
P478
P50
P577
P5875
P698