(Q30896514)

27 June 2017

Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1. (English)

1 reference

27 June 2017

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14

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Mark Lathrop

11

object named as

Mark Lathrop

1 reference

27 June 2017

Abdelaziz Tlili

2

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Dominique Weil

10

object named as

Dominique Weil

1 reference

27 June 2017

5

Sébastien Chardenoux

1 reference

27 June 2017

Saber Masmoudi

1

1 reference

27 June 2017

Marja Majava

3

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27 June 2017

Abdel Monem Ghorbel

4

1 reference

27 June 2017

Arnaud Lemainque

6

1 reference

27 June 2017

Zeineb Ben Zina

7

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27 June 2017

Jihene Moala

8

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27 June 2017

Minna Männikkö

9

1 reference

27 June 2017

Leena Ala-Kokko

12

1 reference

27 June 2017

Mohamed Drira

13

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27 June 2017

Hammadi Ayadi

15

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27 June 2017

1 February 2003

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European Journal of Human Genetics

27 June 2017

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27 June 2017

11

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27 June 2017

2

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27 June 2017

185-188

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Genetic epidemiology of hearing impairment

27 June 2017

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200934

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200934

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200934

Connexin 26 gene linked to a dominant deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200934

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200934

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200934

Defective myosin VIIA gene responsible for Usher syndrome type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200934

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200934

Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200934

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200934

Marshall syndrome associated with a splicing defect at the COL11A1 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200934

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200934

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5200934

1 reference

Dimensions Publication ID

27 June 2017

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1 reference