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English
Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders.
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
10845565
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10845565%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
review article
1 reference
stated in
Europe PubMed Central
title
Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
10845565
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10845565%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
main subject
knowledge base
1 reference
based on heuristic
inferred from title
author
Ethylin Wang Jabs
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
10845565
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10845565%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
author name string
S A Boyadjiev
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
10845565
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10845565%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
publication date
1 April 2000
1 reference
stated in
Europe PubMed Central
PubMed ID
10845565
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10845565%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
published in
Clinical Genetics
1 reference
stated in
Europe PubMed Central
PubMed ID
10845565
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10845565%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
volume
57
1 reference
stated in
Europe PubMed Central
PubMed ID
10845565
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10845565%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
page(s)
253-266
1 reference
stated in
Europe PubMed Central
PubMed ID
10845565
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10845565%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
issue
4
1 reference
stated in
Europe PubMed Central
PubMed ID
10845565
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10845565%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
cites work
The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570403.X
retrieved
21 January 2018
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570403.X
retrieved
21 January 2018
Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570403.X
retrieved
21 January 2018
Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570403.X
retrieved
21 January 2018
Epistatic relationship between Waardenburg syndrome genes MITF and PAX3
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570403.X
retrieved
21 January 2018
Computer assisted diagnosis of malformation syndromes: an evaluation of three databases (LDDB, POSSUM, and SYNDROC).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570403.X
retrieved
21 January 2018
Identifiers
DOI
10.1034/J.1399-0004.2000.570403.X
1 reference
stated in
Europe PubMed Central
PubMed ID
10845565
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10845565%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
PubMed ID
10845565
1 reference
stated in
Europe PubMed Central
PubMed ID
10845565
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10845565%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
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