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Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 9, pp. 995 - 1003
Journal Article
Nature communications, ISSN 2041-1723, 2017, Volume 8, Issue 1, pp. 14279 - 14279
Journal Article
Nature cell biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Life Sciences & Biomedicine | Science & Technology | Cell Biology | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Mutation | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | Index Medicus | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article
American journal of human genetics, ISSN 0002-9297, 09/2014, Volume 95, Issue 3, pp. 257 - 274
Journal Article
American journal of human genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 346 - 356
Journal Article