(Q24676883)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

0 references

0 references

cerebellar hypoplasia

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

N Philip

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

B Chabrol

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

A-M Lossi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

C Cardoso

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

R Guerrini

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

W B Dobyns

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

C Raybaud

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

language of work or name

English

0 references

publication date

1 June 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

4 November 2019

published in

1 reference

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4 November 2019

volume

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4 November 2019

issue

1 reference

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4 November 2019

page(s)

441-446

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Identifiers

DOI

10.1136/JMG.40.6.441

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

PubMed publication ID

12807966

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12807966%20AND%20SRC:MED&resulttype=core&format=json