(Q86976593)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24352918%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24352918%20AND%20SRC:MED&resulttype=core&format=json

Cornelia de Lange syndrome

3 March 2020

main subject

1 reference

Susan A Woods

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24352918%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Haynes B Robinson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24352918%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Lisa J Kohler

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24352918%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Dimitris Agamanolis

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24352918%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

George Sterbenz

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24352918%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Mohamed Khalifa

6

1 reference

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3 March 2020

publication date

29 October 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24352918%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

3 March 2020

published in

1 reference

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3 March 2020

volume

164A

1 reference

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3 March 2020

page(s)

251-258

1 reference

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3 March 2020

issue

1

1 reference

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3 March 2020

Identifiers

DOI

10.1002/AJMG.A.36237

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24352918%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference