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)
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| 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® |
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