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Journal of Pediatrics, The, ISSN 0022-3476, 2014, Volume 165, Issue 3, pp. 611 - 617
Journal Article
Journal Article
Ophthalmology, ISSN 0161-6420, 12/2018, Volume 125, Issue 12, pp. 1937 - 1952
Joubert syndrome (JS) is caused by mutations in >34 genes that encode proteins involved with primary (nonmotile) cilia and the cilium basal body. This study... 
KIDNEY-DISEASE | INDIVIDUALS | CHORIORETINAL COLOBOMA | CEP290 MUTATIONS | NEPHRONOPHTHISIS | OPHTHALMOLOGY | DISORDERS | CILIOPATHY | MOLAR TOOTH | CONGENITAL RETINAL BLINDNESS | PRIMARY CILIUM | Medicine, Experimental | Medical research
Journal Article
Blood, ISSN 0006-4971, 12/2010, Volume 116, Issue 23, pp. 4990 - 5001
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 04/2016, Volume 53, Issue 5, pp. 318 - 329
Journal Article
Journal Article
GASTROENTEROLOGY, ISSN 0016-5085, 05/2013, Volume 144, Issue 5, pp. 1156 - 1157
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2016, Volume 53, Issue 5, p. 318
BackgroundLaminins are heterotrimeric complexes, consisting of α, β and γ subunits that form a major component of basement membranes and extracellular matrix.... 
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 07/2019, Volume 9, Issue 1, pp. 1 - 13
Joubert syndrome (JBTS) is an incurable multisystem ciliopathy syndrome. The most commonly mutated gene in JBTS patients with a cerebello-retinal-renal... 
IN-VITRO | DISRUPTION | THERAPY | MEMBRANE | MULTIDISCIPLINARY SCIENCES | MUTATION | MODEL | CEP290 | TRANSITION-ZONE | CENTROSOMAL PROTEIN | REVEALS | Brain | Phenotypes | Congenital defects | Cytology | Retina | Antisense oligonucleotides | Neurodevelopmental disorders | Defects | Proteins | Protein composition | Exon skipping | Fibroblasts | Cilia | Index Medicus
Journal Article
Cell Reports, ISSN 2211-1247, 07/2017, Volume 20, Issue 2, pp. 384 - 396
Journal Article