(Q77537815)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11807863%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

title

Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11807863%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

author name string

Hiromasa Kobayashi

1

1 reference

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6 December 2019

Megumu Hino

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11807863%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

Makiko Shimodahira

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11807863%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

Toshio Iwakura

4

1 reference

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6 December 2019

Takashi Ishihara

5

1 reference

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6 December 2019

Katsuji Ikekubo

6

1 reference

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6 December 2019

Yoshihiro Ogawa

7

1 reference

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6 December 2019

Kazuwa Nakao

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11807863%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

Hiroyuki Kurahachi

9

1 reference

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6 December 2019

publication date

1 January 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11807863%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

6 December 2019

published in

1 reference

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6 December 2019

volume

107

1 reference

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6 December 2019

page(s)

26-29

1 reference

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6 December 2019

issue

1

1 reference

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Trichorhinophalangeal syndrome type III.

6 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10081

Tricho-rhino-phalangeal syndrome type III

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10081

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10081

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10081

Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10081

The Sugio-Kajii syndrome, proposed tricho-rhino-phalangeal syndrome type III

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10081

Ruvalcaba syndrome: autosomal dominant inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10081

Sporadic case of trichorhinophalangeal syndrome type III in a European patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10081

21 January 2018

Identifiers

DOI

10.1002/AJMG.10081

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11807863%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference