(Q50784242)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21977988%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

title

Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21977988%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

1 reference

1 reference

1

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14 February 2020

author name string

D Sillence

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21977988%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

A Kakakios

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21977988%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

publication date

7 October 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21977988%20AND%20SRC:MED&resulttype=core&format=json

International Journal of Immunogenetics

14 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21977988%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

volume

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21977988%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21977988%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

page(s)

501-505

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21977988%20AND%20SRC:MED&resulttype=core&format=json

The Ciliopathies: An Emerging Class of Human Genetic Disorders

14 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1744-313X.2011.01041.X

Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1744-313X.2011.01041.X

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1744-313X.2011.01041.X

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1744-313X.2011.01041.X

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1744-313X.2011.01041.X

Vav and Rac activation in B cell antigen receptor endocytosis involves Vav recruitment to the adapter protein LAB.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1744-313X.2011.01041.X

Noncompaction of the myocardium associated with Roifman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1744-313X.2011.01041.X

Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1744-313X.2011.01041.X

The cognitive and behavioural phenotype of Roifman syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1744-313X.2011.01041.X

Jeune syndrome: description of 13 cases and a proposal for follow-up protocol

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1744-313X.2011.01041.X

Hypogonadotrophic hypogonadism in Roifman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1744-313X.2011.01041.X

10.1111/J.1744-313X.2011.01041.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21977988%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

1 reference