(Q73301038)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12707963%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Chudley-McCullough syndrome: expanded phenotype and review of the literature (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12707963%20AND%20SRC:MED&resulttype=core&format=json

https://api.crossref.org/works/10.1002/AJMG.A.10180

2 November 2019

Chudley‐McCullough syndrome: Expanded phenotype and review of the literature (English)

1 reference

Chudley-McCullough syndrome

26 December 2023

main subject

1 reference

1 reference

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.10180

International Amd Genomics Consortium Project Manager Susan Blanton Iamdgc

26 December 2023

author

4

object named as

Susan H. Blanton

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12707963

26 December 2023

author name string

Katherine Oelrich Welch

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12707963%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Mustafa Tekin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12707963%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Arti Pandya

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12707963%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Walter E. Nance

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12707963

26 December 2023

Kathleen S. Arnos

5

1 reference

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26 December 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12707963

26 December 2023

publication date

1 May 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12707963%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

15 May 2003

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12707963

full work available at URL

26 December 2023

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.10180

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.10180

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.10180

26 December 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.10180

American Journal of Medical Genetics

26 December 2023

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12707963%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

119A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12707963%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12707963%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

71-76

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12707963%20AND%20SRC:MED&resulttype=core&format=json

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

2 November 2019

cites work

https://api.crossref.org/works/10.1002/AJMG.A.10180

1

1 reference

Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder

26 December 2023

https://api.crossref.org/works/10.1002/AJMG.A.10180

2

1 reference

Chudley-McCullough syndrome: bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities.

26 December 2023

https://api.crossref.org/works/10.1002/AJMG.A.10180

4

1 reference

26 December 2023

Identifiers

DOI

10.1002/AJMG.A.10180

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12707963%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference