Browse "College of Life Science and Bioengineering(생명과학기술대학)" by Author Saunier, Sophie
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| Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes Valente, Enza Maria; Logan, Clare V.; Mougou-Zerelli, Soumaya; Lee, Jeong Ho; Silhavy, Jennifer L.; Brancati, Francesco; Iannicelli, Miriam; et al, NATURE GENETICS, v.42, no.7, pp.619 - 625, 2010-07 |
| 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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