(Q50492152)

14 March 2018

title

Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. (English)

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sensorineural hearing loss

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7

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author name string

J Löffler

1

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D Nekahm

2

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A Hirst-Stadlmann

3

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B Günther

4

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H J Menzel

5

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G Utermann

6

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publication date

1 March 2001

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14 March 2018

European Journal of Human Genetics

published in

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14 March 2018

volume

9

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issue

3

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page(s)

226-230

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200607

exact match

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cites work

Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200607

7 January 2021

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200607

7 January 2021

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200607

7 January 2021

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200607

7 January 2021

High carrier frequency of the 35delG deafness mutation in European populations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200607

7 January 2021

Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200607

7 January 2021

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200607

7 January 2021

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200607

7 January 2021

Connexin-26 mutations in sporadic and inherited sensorineural deafness

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200607

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200607

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14 March 2018

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14 March 2018