(Q75382723)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14755465%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

title

X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14755465%20AND%20SRC:MED&resulttype=core&format=json

spondyloepiphyseal dysplasia tarda

17 November 2019

main subject

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14755465%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

Ohad Birk

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14755465%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

author name string

Udy Bar-Yosef

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14755465%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

Eric Ohana

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14755465%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

Sarit Perlmuter

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14755465%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

Rivka Ofir

5

1 reference

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17 November 2019

publication date

1 February 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14755465%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

17 November 2019

published in

1 reference

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17 November 2019

volume

125A

1 reference

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17 November 2019

issue

1

1 reference

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17 November 2019

page(s)

45-48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14755465%20AND%20SRC:MED&resulttype=core&format=json

Genetic mapping of Xp22.12–p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL)

17 November 2019

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.20435

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.20435

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14755465%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

1 reference