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English
Anal atresia and the Klein-Waardenburg syndrome
scientific article published on June 1, 1981
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Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1048715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7241550%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
title
Anal atresia and the Klein-Waardenburg syndrome
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1048715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7241550%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
main subject
genetics
1 reference
stated in
Crossref
DOI
10.1136/JMG.18.3.239
reference URL
https://api.crossref.org/works/10.1136/JMG.18.3.239
retrieved
29 March 2024
author name string
J. Nutman
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7241550
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550
retrieved
29 March 2024
I. Nissenkorn
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7241550
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550
retrieved
29 March 2024
I. Varsano
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7241550
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550
retrieved
29 March 2024
M. Mimouni
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7241550
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550
retrieved
29 March 2024
R. M. Goodman
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7241550
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550
retrieved
29 March 2024
language of work or name
English
0 references
publication date
1 June 1981
1 reference
stated in
Europe PubMed Central
PMC publication ID
1048715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7241550%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
full work available at URL
https://jmg.bmj.com/content/jmedgenet/18/3/239.full.pdf
file format
Portable Document Format
online access status
open access
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7241550
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550
retrieved
29 March 2024
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7241550/pdf/?tool=EBI
file format
Portable Document Format
online access status
open access
content deliverer
PubMed Central
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7241550
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550
retrieved
29 March 2024
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7241550/?tool=EBI
file format
HTML
online access status
open access
content deliverer
PubMed Central
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7241550
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550
retrieved
29 March 2024
http://jmg.bmjjournals.com/cgi/content/abstract/18/3/239
online access status
open access
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7241550
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550
retrieved
29 March 2024
https://europepmc.org/articles/PMC1048715
file format
HTML
online access status
open access
content deliverer
Europe PubMed Central
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7241550
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550
retrieved
29 March 2024
https://europepmc.org/articles/PMC1048715?pdf=render
file format
Portable Document Format
online access status
open access
content deliverer
Europe PubMed Central
1 reference
stated in
Europe PubMed Central
PubMed publication ID
7241550
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241550
retrieved
29 March 2024
https://syndication.highwire.org/content/doi/10.1136/jmg.18.3.239
1 reference
stated in
Crossref
DOI
10.1136/JMG.18.3.239
reference URL
https://api.crossref.org/works/10.1136/JMG.18.3.239
retrieved
29 March 2024
published in
Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1048715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7241550%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
volume
18
1 reference
stated in
Europe PubMed Central
PMC publication ID
1048715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7241550%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
issue
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1048715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7241550%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
page(s)
239-241
1 reference
stated in
Europe PubMed Central
PMC publication ID
1048715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7241550%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
cites work
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
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048715
retrieved
5 June 2018
Deafness as part of an hereditary syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048715
retrieved
5 June 2018
The syndromology of anorectal malformation (atresia, stenosis, ectopia)
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048715
retrieved
5 June 2018
Heterogeneity in Waardenburg syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048715
retrieved
5 June 2018
The association of Waardenburg syndrome and Hirschsprung megacolon
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048715
retrieved
2 December 2018
Associated malformation with anal and rectal atresiae
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/7241550
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis
series ordinal
1
1 reference
stated in
Crossref
DOI
10.1136/JMG.18.3.239
reference URL
https://api.crossref.org/works/10.1136/JMG.18.3.239
retrieved
29 March 2024
Variation in the phenotypic expression of beta-glucuronidase deficiency
series ordinal
3
1 reference
stated in
Crossref
DOI
10.1136/JMG.18.3.239
reference URL
https://api.crossref.org/works/10.1136/JMG.18.3.239
retrieved
29 March 2024
I-cell disease: biochemical studies.
series ordinal
5
1 reference
stated in
Crossref
DOI
10.1136/JMG.18.3.239
reference URL
https://api.crossref.org/works/10.1136/JMG.18.3.239
retrieved
29 March 2024
Beta-glucuronidase deficiency in a girl with unusual clinical features
series ordinal
7
1 reference
stated in
Crossref
DOI
10.1136/JMG.18.3.239
reference URL
https://api.crossref.org/works/10.1136/JMG.18.3.239
retrieved
29 March 2024
Identifiers
DOI
10.1136/JMG.18.3.239
1 reference
stated in
Europe PubMed Central
PMC publication ID
1048715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7241550%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
PMC publication ID
1048715
1 reference
stated in
Europe PubMed Central
PMC publication ID
1048715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7241550%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
PubMed publication ID
7241550
1 reference
stated in
Europe PubMed Central
PMC publication ID
1048715
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7241550%20AND%20SRC:MED&resulttype=core&format=json
retrieved
14 October 2019
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