(Q60568507)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598343%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

title

Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598343%20AND%20SRC:MED&resulttype=core&format=json

https://api.crossref.org/works/10.1002/AJMG.A.20215

20 December 2019

Oral‐facial‐digital syndrome VII is oral‐facial‐digital syndrome I: A clarification (English)

1 reference

oral-facial-digital syndrome

28 March 2024

main subject

1 reference

based on heuristic

inferred from title

multiple abnormalities

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14598343

28 March 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.20215

Malgorzata J. M. Nowaczyk

28 March 2024

author

1

object named as

Malgorzata J M Nowaczyk

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598343%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

author name string

Susan Zeesman

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598343%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Victoria Wright

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598343%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Donald T. Whelan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14598343

28 March 2024

Sally A. Feather

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14598343

28 March 2024

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=14598343

28 March 2024

publication date

1 December 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598343%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

20 December 2019

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.20215

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.20215

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.20215

28 March 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.20215

American Journal of Medical Genetics

28 March 2024

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598343%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

volume

123A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598343%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598343%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

page(s)

179-182

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598343%20AND%20SRC:MED&resulttype=core&format=json

Sporadic orofaciodigital syndrome type I presenting as end-stage renal disease

20 December 2019

cites work

https://api.crossref.org/works/10.1002/AJMG.A.20215

1

1 reference

Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.

28 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20215

3

1 reference

The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.

28 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20215

4

1 reference

Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred.

28 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20215

5

1 reference

Oral-facial-digital syndrome type I: an unusual cause of hereditary cystic kidney disease

28 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20215

9

1 reference

The oro-facial-digital syndrome

28 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20215

12

1 reference

28 March 2024

Identifiers

DOI

10.1002/AJMG.A.20215

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14598343%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

1 reference