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Journal Article
Cancer Cell, ISSN 1535-6108, 10/2011, Volume 20, Issue 4, pp. 524 - 537
Journal Article
Cell, ISSN 0092-8674, 2011, Volume 145, Issue 4, pp. 513 - 528
Journal Article
Nature Cell Biology, ISSN 1465-7392, 09/2017, Volume 19, Issue 10, pp. 1178 - 1188
Ciliopathies, including nephronophthisis (NPHP), Meckel syndrome (MKS) and Joubert syndrome (JBTS), can be caused by mutations affecting components of the... 
GENE | MEMBRANE | MECKEL-SYNDROME | PERICENTRIOLAR MATERIAL | NEPHRONOPHTHISIS | MUTATIONS | RPGRIP1L | PRIMARY CILIUM | HUMAN HOMOLOG | BASAL BODY PROTEIN | CELL BIOLOGY | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Retina - metabolism | Humans | Male | Smoothened Receptor - metabolism | Cerebellum - abnormalities | Patched-1 Receptor - genetics | Smoothened Receptor - genetics | Young Adult | Ciliopathies - genetics | Patched-1 Receptor - metabolism | Stochastic Processes | Kidney Diseases, Cystic - genetics | Adult | Female | Membrane Proteins - metabolism | Child | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Cell Line | Genetic Predisposition to Disease | Cilia - pathology | Signal Transduction | Membrane Proteins - genetics | Cerebellum - metabolism | Mice, Inbred C57BL | Eye Abnormalities - genetics | Cilia - metabolism | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Carrier Proteins - genetics | Kidney Diseases, Cystic - metabolism | Phenotype | Animals | Carrier Proteins - metabolism | Ciliopathies - metabolism | Eye Abnormalities - pathology | Image Processing, Computer-Assisted | Microscopy, Fluorescence - methods | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Retina - abnormalities | Mutation | Adaptor Proteins, Signal Transducing - metabolism | Retina - pathology | Ciliopathies - pathology | Brain | Meckel's syndrome | Nephronophthisis | Architecture | Congenital defects | Transition zone | Neurodevelopmental disorders | Membrane proteins | Proteins | Signaling | Protein composition | Microscopy | Animal behavior | Stochasticity | Disruption | Localization
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 09/2013, Volume 24, Issue 9, pp. 1435 - 1450
Journal Article