Author/Editor     Slaats, Gisela G.; Isabella, Christine R.; Kroes, Hester Y.; Neubauer, David; Giles, Rachel H.; Doherty, Dan
Title     MKS1 regulates ciliary INPP5E levels in Joubert syndrome
Type     članek
Vol. and No.     Letnik 53, št. 1
Publication year     2016
Volume     str. 62-72
ISSN     1468-6244 - Journal of medical genetics
Language     eng
Keywords     Joubert syndrome
brain malformations
molar tooth sign
gene mutations