(Q48238297)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26880018%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

title

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26880018%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26880018%20AND%20SRC:MED&resulttype=core&format=json

Gandham SriLakshmi Bhavani

8 March 2020

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26880018%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

author name string

A Shukla

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26880018%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

D Trujillano

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26880018%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

M Hebbar

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26880018%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

R Kadavigere

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26880018%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

A Rolfs

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26880018%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

publication date

15 March 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26880018%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26880018%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

volume

90

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26880018%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26880018%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

page(s)

536-539

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26880018%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

1 reference

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

21 January 2018

1 reference

4.2 The CDC and Euro Growth Charts

21 January 2018

1 reference

Nosology and classification of genetic skeletal disorders: 2015 revision.

21 January 2018

1 reference

Crystal structures of IFT70/52 and IFT52/46 provide insight into intraflagellar transport B core complex assembly

21 January 2018

1 reference

The bld1 mutation identifies the Chlamydomonas osm-6 homolog as a gene required for flagellar assembly

21 January 2018

1 reference

Localization of intraflagellar transport protein IFT52 identifies basal body transitional fibers as the docking site for IFT particles

21 January 2018

1 reference