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Genet."},{"key":"10.1016\/j.ajhg.2011.11.005_bib57","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/S0092-8674(01)00298-7","article-title":"Drosophila Rho-associated kinase (Drok) links Frizzled-mediated planar cell polarity signaling to the actin cytoskeleton","volume":"105","author":"Winter","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2011.11.005_bib58","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1002\/j.1460-2075.1996.tb00383.x","article-title":"Protein kinase A phosphorylation of RhoA mediates the morphological and functional effects of cyclic AMP in cytotoxic lymphocytes","volume":"15","author":"Lang","year":"1996","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2011.11.005_bib59","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/ng.726","article-title":"CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs","volume":"43","author":"Merveille","year":"2011","journal-title":"Nat. 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Cell Sci."},{"key":"10.1016\/j.ajhg.2011.11.005_bib63","doi-asserted-by":"crossref","first-page":"2524","DOI":"10.1093\/hmg\/ddr151","article-title":"B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis","volume":"20","author":"Hopp","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2011.11.005_bib64","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.ajhg.2011.06.003","article-title":"Disruption of a ciliary B9 protein complex causes Meckel syndrome","volume":"89","author":"Dowdle","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2011.11.005_bib65","doi-asserted-by":"crossref","unstructured":"Inglis, P.N., Ou, G., Leroux, M.R., and Scholey, J.M. (2007). The sensory cilia of Caenorhabditis. 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