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English
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.
scientific article
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Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
case report
0 references
title
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome
(English)
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
author
Damien Sanlaville
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
Marlene Rio
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
Stanislas Lyonnet
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
Laurence Colleaux
series ordinal
10
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
Valérie Cormier-Daire
series ordinal
11
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
author name string
Borck G
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
Redon R
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
Prieur M
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
Vekemans M
series ordinal
7
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
Carter NP
series ordinal
8
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
Munnich A
series ordinal
9
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
language of work or name
English
0 references
publication date
1 December 2004
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
published in
Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
volume
41
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
page(s)
e128
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
issue
12
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
Identifiers
DOI
10.1136/JMG.2004.026666
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
PMCID
1735640
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
PubMed ID
15591270
1 reference
stated in
Europe PubMed Central
PMCID
1735640
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15591270%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
ResearchGate publication ID
8137287
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