(Q36768312)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17381453%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

review article

1 reference

title

Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17381453%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

1 reference

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17381453%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Alain Hovnanian

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17381453%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

author name string

J Mazereeuw-Hautier

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17381453%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

E Bitoun

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17381453%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

J Chevrant-Breton

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17381453%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

S Y K Man

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17381453%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

C Bodemer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17381453%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

C Prins

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17381453%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

C Antille

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17381453%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

J-H Saurat

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17381453%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

D Atherton

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17381453%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

J I Harper

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17381453%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

language of work or name

English

0 references

publication date

23 March 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17381453%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Dermatology

27 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17381453%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

volume

156

1 reference

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27 December 2019

issue

5

1 reference

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27 December 2019

page(s)

1015-1019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17381453%20AND%20SRC:MED&resulttype=core&format=json

A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome.

27 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2007.07806.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2007.07806.X

Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2007.07806.X

Prevalent connexin 26 gene (GJB2) mutations in Japanese

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2007.07806.X

GJB2mutations in keratitis-ichthyosis-deafness syndrome including its fatal form

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2007.07806.X

KID Syndrome: Report of a Scandinavian Patient with Connexin‐26 Gene Mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2007.07806.X

10.1111/J.1365-2133.2007.07806.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17381453%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

1 reference