(Q34421014)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24852103%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

title

Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24852103%20AND%20SRC:MED&resulttype=core&format=json

congenital diaphragmatic hernia

18 March 2020

main subject

congenital disorder

0 references

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24852103%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Joris R Vermeesch

1 reference

ORCID Public Data File 2021

author name string

P D Brady

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24852103%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Philippe Moerman

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24852103%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Luc De Catte

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24852103%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

K Devriendt

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24852103%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

J R Vermeesch

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24852103%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

publication date

20 May 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24852103%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Medical Genetics

18 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24852103%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

volume

57

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24852103%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24852103%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

page(s)

487-493

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24852103%20AND%20SRC:MED&resulttype=core&format=json

10.1016/J.EJMG.2014.05.001

18 March 2020

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24852103%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

1 reference