(Q48173174)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365987%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

GJB2: the spectrum of deafness-causing allele variants and their phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365987%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365987%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Guy Van Camp

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365987%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Richard J Smith

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365987%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

author name string

Hela Azaiez

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365987%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

G Parker Chamberlin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365987%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Stephanie M Fischer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365987%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Chelsea L Welp

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365987%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Sai D Prasad

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365987%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

R Thomas Taggart

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365987%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

publication date

1 October 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365987%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365987%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365987%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365987%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

page(s)

305-311

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365987%20AND%20SRC:MED&resulttype=core&format=json

Connexin 26 studies in patients with sensorineural hearing loss.

1 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

Connexin-26 mutations in sporadic and inherited sensorineural deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

Better speech performance in cochlear implant patients with GJB2-related deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

Performance of cochlear implant recipients with GJB2-related deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

Audiological Manifestations and Features of Connexin 26 Deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

Towards a better classification of erythrokeratodermias

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

High-throughput methods for detection of genetic variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

Newborn hearing screening: the great omission

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findings.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

Connexin mutations and hearing loss.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

Clicking in the Throat

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20084

7 January 2021