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English
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
title
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
main subject
cerebellum
0 references
congenital disorder
0 references
cerebellar hypoplasia
1 reference
based on heuristic
inferred from title
author
Laurent Villard
series ordinal
8
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
author name string
N Philip
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
B Chabrol
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
A-M Lossi
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
C Cardoso
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
R Guerrini
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
W B Dobyns
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
C Raybaud
series ordinal
7
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
language of work or name
English
0 references
publication date
1 June 2003
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
published in
Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
volume
40
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
issue
6
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
page(s)
441-446
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
Identifiers
DOI
10.1136/JMG.40.6.441
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
PMC publication ID
1735502
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
PubMed publication ID
12807966
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735502
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
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