(Q41886876)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7241550%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

title

Anal atresia and the Klein-Waardenburg syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7241550%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference

https://api.crossref.org/works/10.1136/JMG.18.3.239

29 March 2024

author name string

J. Nutman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550

29 March 2024

I. Nissenkorn

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550

29 March 2024

I. Varsano

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550

29 March 2024

M. Mimouni

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550

29 March 2024

R. M. Goodman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550

29 March 2024

language of work or name

English

0 references

publication date

1 June 1981

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7241550%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

14 October 2019

https://jmg.bmj.com/content/jmedgenet/18/3/239.full.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7241550/pdf/?tool=EBI

29 March 2024

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7241550/?tool=EBI

29 March 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550

http://jmg.bmjjournals.com/cgi/content/abstract/18/3/239

29 March 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550

https://europepmc.org/articles/PMC1048715

29 March 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550

https://europepmc.org/articles/PMC1048715?pdf=render

29 March 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550

https://syndication.highwire.org/content/doi/10.1136/jmg.18.3.239

29 March 2024

1 reference

https://api.crossref.org/works/10.1136/JMG.18.3.239

Journal of Medical Genetics

29 March 2024

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7241550%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7241550%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7241550%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

page(s)

239-241

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7241550%20AND%20SRC:MED&resulttype=core&format=json

A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness

14 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048715

Deafness as part of an hereditary syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048715

The syndromology of anorectal malformation (atresia, stenosis, ectopia)

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048715

Heterogeneity in Waardenburg syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048715

The association of Waardenburg syndrome and Hirschsprung megacolon

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048715

Associated malformation with anal and rectal atresiae

2 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7241550

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis

https://api.crossref.org/works/10.1136/JMG.18.3.239

1

1 reference

Variation in the phenotypic expression of beta-glucuronidase deficiency

29 March 2024

https://api.crossref.org/works/10.1136/JMG.18.3.239

3

1 reference

I-cell disease: biochemical studies

29 March 2024

https://api.crossref.org/works/10.1136/JMG.18.3.239

5

1 reference

Beta-glucuronidase deficiency in a girl with unusual clinical features

29 March 2024

https://api.crossref.org/works/10.1136/JMG.18.3.239

7

1 reference

29 March 2024

Identifiers

DOI

10.1136/JMG.18.3.239

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7241550%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7241550%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference