(Q91333558)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30716475%20AND%20SRC:MED&resulttype=core&format=json

21 April 2020

title

A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30716475%20AND%20SRC:MED&resulttype=core&format=json

21 April 2020

author name string

Sarah Dorval

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30716475%20AND%20SRC:MED&resulttype=core&format=json

21 April 2020

Maura Masciadri

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30716475%20AND%20SRC:MED&resulttype=core&format=json

21 April 2020

Mikaël Mathot

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30716475%20AND%20SRC:MED&resulttype=core&format=json

21 April 2020

Silvia Russo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30716475%20AND%20SRC:MED&resulttype=core&format=json

21 April 2020

Nicole Revencu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30716475%20AND%20SRC:MED&resulttype=core&format=json

21 April 2020

Lidia Larizza

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30716475%20AND%20SRC:MED&resulttype=core&format=json

21 April 2020

publication date

2 February 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30716475%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Medical Genetics

21 April 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30716475%20AND%20SRC:MED&resulttype=core&format=json

21 April 2020

volume

63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30716475%20AND%20SRC:MED&resulttype=core&format=json

21 April 2020

page(s)

103620

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30716475%20AND%20SRC:MED&resulttype=core&format=json

21 April 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30716475%20AND%20SRC:MED&resulttype=core&format=json

10.1016/J.EJMG.2019.01.010

21 April 2020

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30716475%20AND%20SRC:MED&resulttype=core&format=json

21 April 2020

1 reference