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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome![]() Roosing, Susanne; Hofree, Matan; Kim, Sehyun; Scott, Eric; Copeland, Brett; Romani, Marta; Silhavy, Jennifer L; et al, ELIFE, v.4, 2015-05 |
Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability Failler, Marion; Gee, Heon Yung; Krug, Pauline; Joo, Kwangsic; Halbritter, Jan; Belkacem, Lilya; Filhol, Emilie; et al, AMERICAN JOURNAL OF HUMAN GENETICS, v.94, no.6, pp.905 - 914, 2014-06 |
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