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Nature Communications, ISSN 2041-1723, 2016, Volume 7, Issue 1, p. 11491
Journal Article
Journal Article
Genome Biology, ISSN 1474-760X, 2015, Volume 16, Issue 1, p. 293
BACKGROUND: Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of... 
KIAA0556 | Joubert syndrome | Katanin | K04F10.2 | Microtubule | Basal body | Cilia | PROTEIN | PRIMARY CILIUM | FLAGELLAR LENGTH CONTROL | CAENORHABDITIS-ELEGANS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | CILIOPATHY | MUTATIONS | CILIOGENESIS | INTRAFLAGELLAR TRANSPORT | MOLECULAR-BASIS | Abnormalities, Multiple - pathology | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Humans | Child, Preschool | Male | Cerebellum - abnormalities | Brain - metabolism | Exome | Microtubules - metabolism | Basal Bodies - pathology | Kidney Diseases, Cystic - genetics | Adult | Female | ADP-Ribosylation Factors - metabolism | Child | Abnormalities, Multiple - genetics | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Mice, Inbred C57BL | Cells, Cultured | Adenosine Triphosphatases - metabolism | Eye Abnormalities - genetics | Basal Bodies - metabolism | Cerebellum - pathology | Cilia - genetics | Kidney Diseases, Cystic - pathology | Animals | Eye Abnormalities - pathology | Pedigree | Retina - abnormalities | Brain - pathology | Protein Binding | Mice | Mutation | Retina - pathology | Cerebellum | Brain | Phenotypes | Nuclear magnetic resonance--NMR | Kidneys | Disease | Congenital defects | Teeth | Neurodevelopmental disorders | Defects | Proteins | Microtubules | Fibroblasts | Nematodes | Growth hormones | Research
Journal Article
PLoS One, ISSN 1932-6203, 2019, Volume 14, Issue 5, p. e0216705
Journal Article
Biochemical Society Transactions, ISSN 0300-5127, 02/2000, Volume 28, Issue 1, pp. A31 - A31
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/2017, Volume 54, Issue 6, pp. 371 - 380
Journal Article
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 03/2011, Volume 192, Issue 6, pp. 1023 - 1041
Journal Article