(Q26863583)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23131088%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 reference

19 November 2020

The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss (English)

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23131088%20AND%20SRC:MED&resulttype=core&format=json

preventive health services

17 February 2020

main subject

1 reference

biomedical investigative technique

22 July 2019

1 reference

19 September 2019

DNA mutational analysis

1 reference

19 November 2020

1 reference

19 November 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23131088%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Nicholas Lench

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23131088%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Sally J. Dawson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23131088%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Sue Simpson

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23131088%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Claire Packer

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23131088%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

4

Karen P Steel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23131088%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Maria Bitner-Glindzicz

2

object named as

Maria Bitner-Glindzicz

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23131088%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

author name string

Adrian Davis

7

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23131088%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Cordelia Langford

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23131088%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

language of work or name

1 reference

7 November 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23131088%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 February 2013

1 reference

19 November 2020

10

1 reference

International Journal of Audiology

inferred from page(s)

published in

7 references

25 April 2019

20 June 2019

22 July 2019

19 September 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23131088%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

19 November 2020

52

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23131088%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

page(s)

124-133

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23131088%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

issue

2

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23131088%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution-NonCommercial 3.0 Unported

17 February 2020

copyright license

5 references

25 April 2019

20 June 2019

22 July 2019

19 September 2019

Nonsyndromic hearing impairment: unparalleled heterogeneity

19 November 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

Applications of next-generation sequencing technologies in functional genomics

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

Massively parallel sequencing and rare disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

Do we still need the aminoglycosides?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

Current practice, accuracy, effectiveness and cost-effectiveness of the school entry hearing screen

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

Neonatal screening: from the 'Guthrie age' to the 'genetic age'.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

Detection of mutations in genes associated with hearing loss using a microarray-based approach

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

Emerging technologies in DNA sequencing

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

Deafness genes and their diagnostic applications

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

Population screening in the age of genomic medicine

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

Hereditary deafness and phenotyping in humans

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

Appraising organised screening programmes for testing for genetic susceptibility to cancer

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

A molecular basis for human hypersensitivity to aminoglycoside antibiotics

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

Exome sequencing makes medical genomics a reality

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay.

31 May 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2012.733424

Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2012.733424

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2012.733424

Screening for conditions that do not meet the Wilson and Jungner criteria: the case of Duchenne muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2012.733424

Phosphorylated CpxR restricts production of the RovA global regulator in Yersinia pseudotuberculosis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2012.733424

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2012.733424

Introduction to the longitudinal outcomes of children with hearing impairment (LOCHI) study: background, design, sample characteristics

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545543

Guiding policy decisions for genetic screening: developing a systematic and transparent approach

28 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/23131088

12 December 2020

inferred from PubMed ID database lookup

Prevalence of Mitochondrial 1555A→G Mutation in European Children

1 reference

https://pubmed.ncbi.nlm.nih.gov/23131088

12 December 2020

inferred from PubMed ID database lookup

Connexin-26 mutations in sporadic non-syndromal sensorineural deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/23131088

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.3109/14992027.2012.733424

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23131088%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23131088%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23131088%20AND%20SRC:MED&resulttype=core&format=json