(Q38189123)

30 August 2017

title

Genotype phenotype correlations for hearing impairment: approaches to management (English)

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30 August 2017

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L H Hoefsloot

1

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30 August 2017

I Feenstra

series ordinal

2

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30 August 2017

H P M Kunst

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3

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30 August 2017

H Kremer

series ordinal

4

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30 August 2017

publication date

18 February 2014

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30 August 2017

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30 August 2017

volume

85

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30 August 2017

issue

6

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30 August 2017

page(s)

514-523

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Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study

30 August 2017

cites work

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Genetic causes of hearing loss

21 January 2018

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21 January 2018

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Non-syndromic, autosomal-recessive deafness

21 January 2018

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Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

21 January 2018

1 reference

Autosomal recessive nonsyndromic deafness genes: a review

21 January 2018

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Genetic basis of Y-linked hearing impairment

21 January 2018

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Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family

21 January 2018

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Genenames.org: the HGNC resources in 2013

21 January 2018

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GJB2 mutations and degree of hearing loss: a multicenter study

21 January 2018

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Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States

21 January 2018

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Investigation of the child with permanent hearing impairment

21 January 2018

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EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

21 January 2018

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Late postnatal onset of hearing loss due to GJB2 mutations.

21 January 2018

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Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila

21 January 2018

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Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment

21 January 2018

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Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.

21 January 2018

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A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.

21 January 2018

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A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation

21 January 2018

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Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.

21 January 2018

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Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.

21 January 2018

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PRPS1 mutations: four distinct syndromes and potential treatment.

21 January 2018

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Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/CGE.12339

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30 August 2017

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