(Q34274871)

1 August 2017

title

Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform (English)

1 reference

1 August 2017

0 references

1 reference

Congenital hearing loss

1 reference

1 reference

15

1 reference

1 August 2017

Filip Pattyn

10

0 references

Filip Van Nieuwerburgh

object named as

Filip Van Nieuwerburgh

8

0 references

Dieter Deforce

object named as

Dieter Deforce

12

0 references

Guy Van Camp

object named as

Guy Van Camp

16

0 references

author name string

Sarah De Keulenaer

1

1 reference

1 August 2017

Jan Hellemans

2

1 reference

1 August 2017

Steve Lefever

3

1 reference

1 August 2017

Jean-Pierre Renard

4

1 reference

1 August 2017

Joachim De Schrijver

5

1 reference

1 August 2017

Hendrik Van de Voorde

6

1 reference

1 August 2017

Mohammad Amin Tabatabaiefar

7

1 reference

1 August 2017

Daisy Flamez

9

1 reference

1 August 2017

Bieke Scharlaken

11

1 reference

1 August 2017

Sofie Bekaert

13

1 reference

1 August 2017

Wim Van Criekinge

14

1 reference

1 August 2017

Paul Coucke

17

1 reference

1 August 2017

publication date

18 May 2012

1 reference

1 August 2017

1 reference

1 August 2017

volume

5

1 reference

1 August 2017

page(s)

17

1 reference

Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

The impact of next-generation sequencing on genomics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

Newborn hearing screening--a silent revolution

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

BLAT—The BLAST-Like Alignment Tool

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1755-8794-5-17

21 January 2018

Identifiers

DOI

10.1186/1755-8794-5-17

1 reference

Dimensions Publication ID

1 August 2017

0 references

1 reference

1 August 2017

1 reference