(Q51288402)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23240094%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

title

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23240094%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

main subject

patient

0 references

osteogenesis imperfecta

0 references

author

Frank Rauch

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23240094%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Allan M Lund

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23240094%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

author name string

Pierre Moffatt

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23240094%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Moira Cheung

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23240094%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Peter Roughley

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23240094%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Liljana Lalic

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23240094%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Norman Ramirez

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23240094%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Somayyeh Fahiminiya

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23240094%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Jacek Majewski

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23240094%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Francis H Glorieux

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23240094%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

language of work or name

English

0 references

publication date

1 January 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23240094%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

20 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23240094%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

volume

50

1 reference

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20 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23240094%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

page(s)

21-24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23240094%20AND%20SRC:MED&resulttype=core&format=json

10.1136/JMEDGENET-2012-101307

20 February 2020

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23240094%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

1 reference