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European journal of human genetics : EJHG, ISSN 1018-4813, 02/2016, Volume 24, Issue 2, pp. 214 - 220
Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases. JBS is genetically heterogeneous, with >20 causative... 
Humans | Membrane Proteins/genetics | Child, Preschool | Genotype | Infant | Male | Adaptor Proteins, Signal Transducing/genetics | Genetic Counseling | Proteins/genetics | Young Adult | Eye Abnormalities/diagnosis | Retina/abnormalities | Cerebellum/abnormalities | Adolescent | Female | High-Throughput Nucleotide Sequencing | Kidney Diseases, Cystic/diagnosis | Child | Pathology, Molecular | Abnormalities, Multiple/diagnosis | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Kidney Diseases, Cystic - diagnosis | Cerebellum - abnormalities | Abnormalities, Multiple - epidemiology | Kidney Diseases, Cystic - genetics | Abnormalities, Multiple - genetics | Kidney Diseases, Cystic - epidemiology | Eye Abnormalities - diagnosis | Membrane Proteins - genetics | Eye Abnormalities - epidemiology | Eye Abnormalities - genetics | Proteins - genetics | Abnormalities, Multiple - diagnosis | Adaptor Proteins, Signal Transducing - genetics | Retina - abnormalities | Brain | Pediatrics | Phenotypes | Medical imaging | Congenital defects | Intellectual disabilities | Genes | Case reports | Population studies | Neurodevelopmental disorders | Patients | Genotype & phenotype | Genetic counseling | Genotyping | Polydactyly | Genetics | Consanguinity | Mutation | Genotypes | Index Medicus
Journal Article
Clinical journal of the American Society of Nephrology, ISSN 1555-9041, 12/2017, Volume 12, Issue 12, pp. 1962 - 1973
Background and objectives Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and... 
Cerebellum | Hypertension | Polycystic kidney, autosomal recessive | Nephronophthisis | Joubert syndrome 1 | Ciliopathies | Retina | Cystic kidney | Prospective studies | Kidney diseases, cystic | Abnormalities, multiple | Genetic renal disease | Kidney | Sequence analysis, DNA | Pregnancy | Ciliopathy | Multicystic dysplastic kidney | Eye abnormalities | Phenotype | Kidney failure, chronic | Genetic association studies | Ultrasonography, prenatal | Mutation | Polycystic kidney disease | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Abnormalities, Multiple - metabolism | Retina - metabolism | Eye Abnormalities - diagnostic imaging | Prospective Studies | Multicystic Dysplastic Kidney - complications | Humans | Child, Preschool | Kidney Diseases, Cystic - diagnostic imaging | Infant | Male | Cerebellum - abnormalities | Polycystic Kidney, Autosomal Recessive - genetics | Young Adult | Cerebellum - diagnostic imaging | Polycystic Kidney, Autosomal Recessive - complications | Cell Cycle Proteins - genetics | Kidney Diseases, Cystic - genetics | Adult | Female | Neoplasm Proteins - genetics | Child | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Antigens, Neoplasm - genetics | Multicystic Dysplastic Kidney - genetics | Membrane Proteins - genetics | Cerebellum - metabolism | Abnormalities, Multiple - diagnostic imaging | Genotype | Eye Abnormalities - genetics | Polycystic Kidney, Autosomal Recessive - diagnostic imaging | Kidney Failure, Chronic - genetics | Proteins - genetics | Magnetic Resonance Imaging | Retina - diagnostic imaging | Kidney Diseases, Cystic - metabolism | Multicystic Dysplastic Kidney - diagnostic imaging | Ultrasonography, Prenatal | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Age of Onset | Retina - abnormalities | Kidney Diseases, Cystic - complications | Kidney Diseases, Cystic - congenital | Eye Abnormalities - complications | Kidney Failure, Chronic - etiology | Index Medicus | nephronophthisis | cystic kidney | kidney | Eye Abnormalities | polycystic kidney disease | Kidney Diseases, Cystic | Multicystic Dysplastic Kidney | Polycystic Kidney, Autosomal Recessive | Genetic Association Studies | Abnormalities, Multiple | Sequence Analysis, DNA | genetic renal disease | ciliopathy | Kidney Failure, Chronic | Original | hypertension
Journal Article
Acta neuropathologica, ISSN 0001-6322, 2/2009, Volume 117, Issue 2, pp. 185 - 200
Journal Article
The British Journal of Psychiatry, ISSN 0007-1250, 10/2001, Volume 179, Issue 4, pp. 330 - 334
Journal Article
Neurology, ISSN 1526-632X, 07/2002, Volume 59, Issue 2, pp. 184 - 192
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 0027-8424, 4/2011, Volume 108, Issue 16, pp. 6638 - 6643
Journal Article
Journal of medical genetics, ISSN 0022-2593, 08/2015, Volume 52, Issue 8, pp. 514 - 522
Journal Article