(Q40901195)

24 September 2017

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics (English)

1 reference

24 September 2017

0 references

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26011646%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Eva Klopocki

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26011646%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

author name string

M A H Hofrichter

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26011646%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

C Neuner

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26011646%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

J Schröder

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26011646%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

A Gehrig

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26011646%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

J B Hennermann

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26011646%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

F Kraus

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26011646%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

W Shehata-Dieler

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26011646%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

I Nanda

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26011646%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

T Haaf

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26011646%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

publication date

21 January 2014

1 reference

24 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26011646%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

volume

87

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26011646%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26011646%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

page(s)

49-55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26011646%20AND%20SRC:MED&resulttype=core&format=json

Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3.

12 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302246

SIFT web server: predicting effects of amino acid substitutions on proteins

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302246

Mechanisms for recurrent and complex human genomic rearrangements

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302246

Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302246

A method and server for predicting damaging missense mutations

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302246

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302246

Stereocilin-deficient mice reveal the origin of cochlear waveform distortions

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302246

Genetics of congenital hearing impairment: a clinical approach

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302246

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302246

Newborn hearing screening--a silent revolution

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302246

Hereditary deafness and phenotyping in humans

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302246

Structure of outer hair cell stereocilia side and attachment links in the chinchilla cochlea

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302246

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302246

Primer3 on the WWW for general users and for biologist programmers

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302246

Intercellular cross-linkages between the stereociliary bundles of adjacent hair cells in the guinea pig cochlea.

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302246

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

17 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FCGE.12332

CATSPER2, a human autosomal nonsyndromic male infertility gene

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FCGE.12332

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26011646

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/CGE.12332

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26011646%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26011646%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26011646%20AND%20SRC:MED&resulttype=core&format=json