(Q28238410)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

title

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Monique Elmaleh-bergès

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Jeanne Amiel

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Dominique Bremond-Gignac

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Tania Attié-Bitach

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Damien Sanlaville

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

13

Verloes A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

author name string

Delahaye A

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Sznajer Y

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Delpierre I

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Audollent S

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Wiener-Vacher S

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Mansbach AL

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Baumann C

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

language of work or name

English

0 references

publication date

1 August 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

volume

72

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

page(s)

112-121

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

2 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00821.X

Choanal atresia and associated multiple anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00821.X

CHARGE association: an update and review for the primary pediatrician

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00821.X

An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00821.X

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00821.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00821.X

Use of an expert model to test diagnostic criteria in CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00821.X

Familial CHARGE syndrome: clinical report with autopsy findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00821.X

CHD7 gene and non-syndromic cleft lip and palate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00821.X

CT of the temporal bone in the CHARGE association.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00821.X

10.1111/J.1399-0004.2007.00821.X

21 January 2018

Identifiers

DOI

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17661815%20AND%20SRC:MED&resulttype=core&format=json

release_cz2symt4vvfcpeykryex3r626m

2 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/cz2symt4vvfcpeykryex3r626m

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017