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Nature Reviews Drug Discovery, ISSN 1474-1776, 01/2003, Volume 2, Issue 1, pp. 38 - 51
Journal Article
Journal Article
Journal Article
Circulation research, ISSN 0009-7330, 08/2011, Volume 109, Issue 4, pp. 356 - 359
Journal Article
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 2010, Volume 108, Issue 2, pp. 751 - 756
Journal Article
The Journal of pathology, ISSN 1096-9896, 2019, Volume 248, Issue 4, pp. 396 - 408
.... Mutations in KIAA0856 have been recently identified in JS patients. Herein, we describe a novel mouse JS model with a conditional deletion of the conserved exons 11... 
sonic hedgehog | ataxia | KIAA0586 | Joubert syndrome | primary cilia | cerebellum | ENCODES | PATHOLOGY | CENTROSOMAL PROTEIN | GENE | ONCOLOGY | EXPANSION | CEREBELLAR DEVELOPMENT | CILIOPATHY | MUTATIONS | CEP290 | REVEALS | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Mice, Knockout - genetics | Sequence Deletion | Retina - metabolism | Exons | Cerebellum - abnormalities | Cell Cycle Proteins - genetics | Kidney Diseases, Cystic - genetics | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Disease Models, Animal | Cerebellum - metabolism | Cell Cycle Proteins - deficiency | Genetic Markers | Eye Abnormalities - genetics | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Kidney Diseases, Cystic - metabolism | Phenotype | Animals | Eye Abnormalities - pathology | Retina - abnormalities | Mice | Retina - pathology | Cerebellum | Brain | Animal models | Leukocyte migration | Congenital defects | Disorientation | Central nervous system | Neurodevelopmental disorders | Defects | Cell adhesion & migration | Genotype & phenotype | Signal transduction | Hemispheres | Clonal deletion | Clusters | Ataxia | Cilia | Phenotypes | Neurons | Granule cells | Molecular modelling | Hedgehog protein | Granular materials | Mutation | Cell migration | Synapses | Original Papers | Original Paper
Journal Article