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The American Journal of Human Genetics, ISSN 0002-9297, 01/2014, Volume 94, Issue 1, pp. 62 - 72
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2015, Volume 52, Issue 8, pp. 514 - 522
Journal Article
Current Opinion in Genetics & Development, ISSN 0959-437X, 06/2019, Volume 56, pp. 22 - 33
Light sensation occurs in photoreceptor outer segments (OS), which derive from highly specialized primary cilia, based on structural and molecular... 
CILIARY | LOCALIZATION | COMPLEX | NETWORK | GENE | ROD OUTER SEGMENT | PROTEIN TRAFFICKING | GENETICS & HEREDITY | JOUBERT SYNDROME | INTRAFLAGELLAR TRANSPORT | CEP290 | CELL BIOLOGY | Proteins | Medical genetics
Journal Article
The Journal of Pathology, ISSN 0022-3417, 08/2019, Volume 248, Issue 4, pp. 393 - 395
Recent recognition of the key role of primary cilia in orchestrating human development and of the dire consequences of their dysfunction on human health has... 
Talpid3 | molar tooth sign | cerebellar malformation | mouse model | ciliopathies | Joubert syndrome | ONCOLOGY | KIAA0586 | PATHOLOGY | Cerebellum | Brain | Cell survival | Hedgehog protein | Congenital defects | Central nervous system | Mutation | Neurodevelopmental disorders | Cell differentiation | Cilia
Journal Article
M S-MEDECINE SCIENCES, ISSN 0767-0974, 11/2014, Volume 30, Issue 11, pp. 1011 - 1023
Ciliopathies are a large group of human disorders caused by dysfunction of primary or motile cilia and unified by their overlapping clinical features (brain... 
JOUBERT-SYNDROME | RETINAL DEGENERATION | MEDICINE, RESEARCH & EXPERIMENTAL | PHOTORECEPTOR | DISEASE | BARDET-BIEDL-SYNDROME | NEPHRONOPHTHISIS | CILIOGENESIS | MUTATIONS | INHERITANCE | PRIMARY CILIUM | Cilia - physiology | Cell Polarity | Molecular Motor Proteins - deficiency | Humans | Microtubule Proteins - physiology | Genetic Diseases, Inborn - genetics | Genetic Diseases, Inborn - pathology | Cerebellum - abnormalities | Molecular Motor Proteins - genetics | Membrane Proteins - deficiency | Cerebellar Diseases - pathology | Membrane Proteins - physiology | Cilia - ultrastructure | Kidney Diseases, Cystic - genetics | Microtubule Proteins - genetics | Cilia - chemistry | Disease Models, Animal | Microtubule Proteins - deficiency | Genetic Association Studies | Membrane Proteins - genetics | Abnormalities, Multiple | Chromosome Mapping | Eye Abnormalities - genetics | Forecasting | Genes, Recessive | Genetic Heterogeneity | Syndrome | Kidney Diseases, Cystic - pathology | Molecular Motor Proteins - physiology | Systems Biology - methods | Phenotype | Animals | Cerebellar Diseases - genetics | Eye Abnormalities - pathology | Proteomics | Retina - abnormalities | Polymorphism, Single Nucleotide | Ciliary Motility Disorders - classification | Retina - pathology | Sequence Analysis, DNA - methods | Ciliary Motility Disorders - genetics
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2017, Volume 101, Issue 1, pp. 23 - 36
Journal Article
Genetics in Medicine, ISSN 1098-3600, 10/2010, Volume 12, Issue 10, pp. 641 - 647
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2019, Volume 104, Issue 4, pp. 701 - 708
Developmental delay and intellectual disability (DD and ID) are heterogeneous phenotypes that arise in many rare monogenic disorders. Because of this rarity,... 
clinical sequencing | genome | BRSK2 | exome | de novo | developmental delay | Mendelian disease | intellectual disability | MAMMALIAN TARGET | DE-NOVO MUTATIONS | GENES | GENETICS & HEREDITY | FRAMEWORK | PREVALENCE | KINASES | Physiological aspects | Genetic aspects | Research | Genetic variation | Mental retardation | Risk factors | Report
Journal Article