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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 05/2013, Volume 163, Issue 2, pp. 92 - 105
Journal Article
Journal Article
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 01/2014, Volume 35, Issue 1, pp. 137 - 146
Joubert syndrome ( JS ) is characterized by a distinctive cerebellar structural defect, namely the « molar tooth sign ». JS is genetically heterogeneous,... 
PDE | prenylation | oubert syndrome | primary cilia | INPP | Prenylation | PDE6D | Primary cilia | Joubert syndrome | INPP5E | IMMUNITY | ZEBRAFISH | CILIOPATHIES | PRENYL-BINDING PROTEIN | DEFICIENCY | CYCLIC-GMP PHOSPHODIESTERASE | SEQUENCING-BASED DISCOVERY | DELTA-SUBUNIT | TRANSPORT | GENETICS & HEREDITY | ARL2-GTP | Retina - metabolism | Humans | Zebrafish - abnormalities | Male | Cyclic Nucleotide Phosphodiesterases, Type 6 - genetics | Cerebellum - abnormalities | Protein Prenylation | Exome | Kidney Diseases, Cystic - genetics | Female | ADP-Ribosylation Factors - metabolism | Eye Abnormalities - metabolism | Cyclic Nucleotide Phosphodiesterases, Type 6 - metabolism | Genetic Predisposition to Disease | Phosphoric Monoester Hydrolases - genetics | Cerebellar Diseases - metabolism | Zebrafish Proteins - metabolism | Abnormalities, Multiple | Models, Molecular | Eye Abnormalities - genetics | Sequence Analysis, DNA | Cilia - metabolism | Zebrafish - genetics | Homozygote | Kidney Diseases, Cystic - metabolism | Animals | Cerebellar Diseases - genetics | Pedigree | Proteomics | Retina - abnormalities | Zebrafish Proteins - genetics | Phosphoric Monoester Hydrolases - metabolism | Genetic disorders | Analysis | Genomics | Genetic research | Genetic aspects | Tubulins | Mental illness | Protein binding | Mutation
Journal Article
Journal of Autism and Developmental Disorders, ISSN 0162-3257, 02/2005, Volume 35, Issue 1, pp. 103 - 116
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European Journal of Paediatric Neurology, ISSN 1090-3798, 2016, Volume 20, Issue 4, pp. 604 - 610
Journal Article
Human Mutation, ISSN 1059-7794, 09/2015, Volume 36, Issue 9, pp. 894 - 902
Journal Article