(Q34222871)

31 July 2017

A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach (English)

1 reference

31 July 2017

1 reference

Wenxue Tang

1

1 reference

31 July 2017

Dong Qian

2

1 reference

31 July 2017

Shoeb Ahmad

3

1 reference

31 July 2017

Douglas Mattox

4

1 reference

31 July 2017

N Wendell Todd

5

1 reference

31 July 2017

Harrison Han

6

1 reference

31 July 2017

Shouting Huang

7

1 reference

31 July 2017

Yuhua Li

8

1 reference

31 July 2017

Yunfeng Wang

9

1 reference

31 July 2017

Huawei Li

10

1 reference

31 July 2017

Xi Lin

11

1 reference

31 July 2017

5 April 2012

1 reference

Genetic Testing and Molecular Biomarkers

31 July 2017

1 reference

31 July 2017

16

1 reference

31 July 2017

6

1 reference

31 July 2017

536-542

1 reference

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

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378026

Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378026

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378026

Next-generation DNA sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378026

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378026

Identification of genetic variants using bar-coded multiplexed sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378026

SOAP: short oligonucleotide alignment program

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378026

Multiplex amplification of large sets of human exons

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378026

Direct selection of human genomic loci by microarray hybridization

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378026

Newborn hearing screening--a silent revolution

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378026

Sensorineural hearing loss in children.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378026

A genotype-phenotype correlation for GJB2 (connexin 26) deafness

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378026

The role of connexins in human disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378026

MapView: visualization of short reads alignment on a desktop computer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378026

Microarray-based genomic selection for high-throughput resequencing.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378026

Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378026

Evidence of a founder effect for the 235delC mutation of GJB2 (connexin�26) in east Asians

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378026

The prevalence of connexin 26 ( GJB2) mutations in the Chinese population.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378026

Minimizing false-positives in universal newborn hearing screening: a simple solution.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378026

28 October 2018

Identifiers

DOI

10.1089/GTMB.2011.0187

1 reference

release_5lwljrvo4jc6vdj4jm7dxnqgfa

31 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5lwljrvo4jc6vdj4jm7dxnqgfa

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

3378026

1 reference

31 July 2017

1 reference