(Q87783249)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24782201%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

title

Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24782201%20AND%20SRC:MED&resulttype=core&format=json

distal arthrogryposis type 5D

17 March 2020

main subject

distal arthrogryposis

1 reference

based on heuristic

inferred from title

1 reference

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24782201%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

author name string

Christopher P Barnett

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24782201%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Emily J Todd

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24782201%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Royston Ong

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24782201%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Mark R Davis

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24782201%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Vanessa Atkinson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24782201%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Richard Allcock

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24782201%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Gianina Ravenscroft

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24782201%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

publication date

29 April 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24782201%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

17 March 2020

published in

1 reference

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17 March 2020

volume

164A

1 reference

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17 March 2020

issue

7

1 reference

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17 March 2020

page(s)

1846-1849

1 reference

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17 March 2020

Identifiers

DOI

10.1002/AJMG.A.36342

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24782201%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

1 reference