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CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability. , Deniz E ., Dev Biol. July 1, 2023; 499 75-88.
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease. , Mishra-Gorur K., Proc Natl Acad Sci U S A. April 18, 2023; 120 (16): e2214997120.
GJA1 depletion causes ciliary defects by affecting Rab11 trafficking to the ciliary base. , Jang DG., Elife. August 25, 2022; 11
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. , Marquez J ., J Med Genet. July 1, 2021; 58 (7): 453-464.
Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development. , Konjikusic MJ., PLoS Genet. November 6, 2018; 14 (11): e1007817.
Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia. , Del Viso F., Dev Cell. September 12, 2016; 38 (5): 478-92.
Left- right asymmetry: lessons from Cancún. , Burdine RD., Development. November 1, 2013; 140 (22): 4465-70.