(Q51874786)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054018%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054018%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

main subject

22q13 deletion syndrome

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054018%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

A-M Bisgaard

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054018%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

M Kirchhoff

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054018%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

J E Nielsen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054018%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

M Kibaek

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054018%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

M Schwartz

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054018%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

E Christensen

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054018%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

publication date

21 November 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054018%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054018%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

75

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054018%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054018%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

175-179

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054018%20AND%20SRC:MED&resulttype=core&format=json

22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay

17 January 2020

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2008.01113.X

Molecular and phenotypic characterization of ring chromosome 22

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2008.01113.X

10.1111/J.1399-0004.2008.01113.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054018%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference