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Congenital Anomalies, ISSN 0914-3505, 09/2019, Volume 59, Issue 5, pp. 181 - 182
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 08/2019, Volume 28, Issue 15, pp. 2573 - 2588
Mutations in subunits of the cilia-specific cytoplasmic dynein-2 (CD2) complex cause short-rib thoracic dystrophy syndromes (SRTDs), characterized by impaired... 
CYTOPLASMIC DYNEIN | DEFECTS | ACTIVATOR | DYNC2H1 MUTATIONS | HAIR FOLLICLE | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOTOR | GENETICS & HEREDITY | LEFT-RIGHT ASYMMETRY | TRANSPORT PROTEINS | ASPHYXIATING THORACIC DYSTROPHY | REPRESSOR FUNCTIONS
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 915 - 925
Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and... 
VAN-CREVELD-SYNDROME | DYNC2H1 MUTATIONS | GENE | DISEASE | GENETICS & HEREDITY | CILIOPATHY | RIB-POLYDACTYLY SYNDROME | CILIA | KIDNEY | ASPHYXIATING THORACIC DYSTROPHY | INTRAFLAGELLAR TRANSPORT PROTEIN | Bone and Bones - pathology | Humans | Asian Continental Ancestry Group - genetics | Molecular Sequence Data | Male | Intracellular Signaling Peptides and Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Ellis-Van Creveld Syndrome - pathology | Gene Knockdown Techniques | Bone and Bones - metabolism | Kidney Diseases, Cystic - genetics | Ectodermal Dysplasia - pathology | Female | Intracellular Signaling Peptides and Proteins - genetics | Cytoplasmic Dyneins - metabolism | Dyneins - metabolism | Amino Acid Sequence | European Continental Ancestry Group - genetics | Craniosynostoses - genetics | Cytoplasmic Dyneins - genetics | Retinitis Pigmentosa - genetics | Cerebellar Ataxia - pathology | Fibroblasts - pathology | Zebrafish - genetics | Kidney Diseases, Cystic - pathology | Phenotype | Animals | Cerebellar Ataxia - genetics | Epistasis, Genetic | Alleles | Ectodermal Dysplasia - genetics | Dyneins - genetics | Mutation | Bone and Bones - abnormalities | Retinitis Pigmentosa - pathology | Craniosynostoses - pathology | Physiological aspects | Ciliata | Genetic aspects | Research | Gene expression | Biological transport, Active | Report
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 932 - 944
Journal Article
Molecular Biology of the Cell, ISSN 1059-1524, 08/2016, Volume 27, Issue 15, pp. 2404 - 2422
Journal Article
Human Mutation, ISSN 1059-7794, 05/2013, Volume 34, Issue 5, pp. 714 - 724
Journal Article
Journal of Cell Science, ISSN 0021-9533, 2014, Volume 127, Issue 21, pp. 4774 - 4787
Journal Article