(Q55738746)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16835913%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

title

Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16835913%20AND%20SRC:MED&resulttype=core&format=json

frontometaphyseal dysplasia

26 December 2019

main subject

1 reference

1

1 reference

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26 December 2019

Andrew Green

10

1 reference

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26 December 2019

Geert Mortier

17

1 reference

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Andrew Oliver Mungo Wilkie

26 December 2019

27

1 reference

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26 December 2019

24

Andrea Superti-Furga

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16835913%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

18

Ruth Newbury-Ecob

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16835913%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

22

Izabela Brozek

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16835913%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

21

Karolina Ochman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16835913%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

author name string

Timothy Morgan

3

1 reference

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26 December 2019

Lesley Adès

4

1 reference

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26 December 2019

Salim Aftimos

5

1 reference

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26 December 2019

Odile Boute

6

1 reference

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26 December 2019

Torunn Fiskerstrand

7

1 reference

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26 December 2019

Sixto Garcia-Miñaur

8

1 reference

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26 December 2019

Arthur Grix

9

1 reference

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26 December 2019

Vazken Der Kaloustian

11

1 reference

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26 December 2019

Ray Lewkonia

12

1 reference

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26 December 2019

Brenda McInnes

13

1 reference

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26 December 2019

Tamás Illés

16

1 reference

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26 December 2019

Linda Nicholson

19

1 reference

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26 December 2019

Mohnish Suri

25

1 reference

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26 December 2019

Margo Whiteford

26

1 reference

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26 December 2019

Deborah Krakow

28

1 reference

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26 December 2019

Zandra A Jenkins

2

1 reference

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26 December 2019

Mieke M van Haelst

14

1 reference

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26 December 2019

Grazia Mancini

15

1 reference

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26 December 2019

Charles I Scott

20

1 reference

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26 December 2019

Deborah J Shears

23

1 reference

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26 December 2019

language of work or name

English

0 references

publication date

1 August 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16835913%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

26 December 2019

published in

1 reference

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26 December 2019

volume

140

1 reference

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26 December 2019

issue

16

1 reference

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26 December 2019

page(s)

1726-1736

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16835913%20AND%20SRC:MED&resulttype=core&format=json

The oto-palato-digital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia

26 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31322

Frontometaphyseal dysplasia: evidence for autosomal dominant inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31322

AN UNDIAGNOSED BONE DYSPLASIA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31322

Frontometaphyseal Dysplasia. Evidence for dominant inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31322

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.31322

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16835913%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

1 reference