(Q78560912)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12447940%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

title

Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12447940%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12447940%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

6

James R Lupski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12447940%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

author name string

Ken Inoue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12447940%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Cornelius F Boerkoel

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12447940%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Carol Crowe

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12447940%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Joram Sawady

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12447940%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Dimitri P Agamanolis

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12447940%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

publication date

1 December 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12447940%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12447940%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

volume

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12447940%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12447940%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

page(s)

836-842

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12447940%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Identifiers

DOI

10.1002/ANA.10404

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12447940%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

1 reference