Alby Caroline and Piquand Kevin and Huber Céline and Megarbané André and Ichkou Amale and Legendre Marine and Pelluard Fanny and Encha-Ravazi Ferechté and Abi-Tayeh Georges and Bessiéres Bettina and El Chehadeh-Djebbar Salima and Laurent Nicole and Faivre Laurence and Sztriha László and Zombor Melinda and Szabó Hajnalka and et al.:
Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome.
AMERICAN JOURNAL OF HUMAN GENETICS, 97 (2).
pp. 311-318.
ISSN 0002-9297
(2015)
Preview |
Text
1-s2.0-S0002929715002396-main.pdf - Published Version Download (1MB) | Preview |
Creators: |
|
|||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Item Type: | Journal Article | |||||||||||||||||
Szerzők száma: | 30 | |||||||||||||||||
Journal or Publication Title: | AMERICAN JOURNAL OF HUMAN GENETICS | |||||||||||||||||
Date: | 2015 | |||||||||||||||||
Volume: | 97 | |||||||||||||||||
Number: | 2 | |||||||||||||||||
Page Range: | pp. 311-318 | |||||||||||||||||
ISSN: | 0002-9297 | |||||||||||||||||
Faculty/Unit: | Faculty of Medicine | |||||||||||||||||
Institution: | University of Szeged (2000-) | |||||||||||||||||
Language: | English | |||||||||||||||||
MTMT rekordazonosító: | 3024433 | |||||||||||||||||
DOI azonosító: | https://doi.org/10.1016/j.ajhg.2015.06.003 | |||||||||||||||||
Date Deposited: | 2018. Jan. 25. 15:11 | |||||||||||||||||
Last Modified: | 2022. Aug. 11. 11:07 | |||||||||||||||||
URI: | http://publicatio.bibl.u-szeged.hu/id/eprint/12790 |
Web of Science® Times Cited: 68 | View citing articles in Web of Science® |
Actions (login required)
![]() |
View Item |