Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss (Q30450168)

18 August 2017

Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss (English)

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18 August 2017

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1

Byung Yoon Choi

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18 August 2017

Gibeom Park

2

1 reference

18 August 2017

Jungsoo Gim

3

1 reference

18 August 2017

Ah Reum Kim

4

1 reference

18 August 2017

Bong-Jik Kim

5

1 reference

18 August 2017

Hyo-Sang Kim

6

1 reference

18 August 2017

Joo Hyun Park

7

1 reference

18 August 2017

Taesung Park

8

1 reference

18 August 2017

Seung-Ha Oh

9

1 reference

18 August 2017

Kyu-Hee Han

10

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18 August 2017

Woong-Yang Park

11

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18 August 2017

language of work or name

English

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publication date

22 August 2013

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18 August 2017

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18 August 2017

8

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18 August 2017

8

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18 August 2017

e68692

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Creative Commons Attribution 4.0 International

18 August 2017

start time

22 August 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

A rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750053

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750053

Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750053

Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750053

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750053

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750053

Hearing impairment: a panoply of genes and functions

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750053

Function and expression pattern of nonsyndromic deafness genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750053

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750053

Value of computed tomography in the evaluation of children with cochlear nerve deficiency

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750053

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750053

At the speed of sound: gene discovery in the auditory system

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750053

A novel conserved cochlear gene, OTOR: identification, expression analysis, and chromosomal mapping

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750053

Click-evoked myogenic potentials recorded on alert guinea pigs.

28 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068692

Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068692

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0068692

10.1371/JOURNAL.PONE.0068692

21 January 2018

Identifiers

DOI

1 reference

release_hxdfpdcqyzdpbis4avifmx4334

18 August 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/hxdfpdcqyzdpbis4avifmx4334

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

18 August 2017

PubMed publication ID

23990876

1 reference