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XB--1014459
Papers associated with arl13b (and OMIM)
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TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa., Bocquet B, Borday C, Erkilic N, Mamaeva D, Donval A, Masson C, Parain K, Kaminska K, Quinodoz M, Perea-Romero I, Garcia-Garcia G, Jimenez-Medina C, Boukhaddaoui H, Coget A, Leboucq N, Calzetti G, Gandolfi S, Percesepe A, Barili V, Uliana V, Delsante M, Bozzetti F, Scholl HP, Corton M, Ayuso C, Millan JM, Rivolta C, Meunier I, Perron M, Kalatzis V., JCI Insight. November 8, 2023; 8 (21): |
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INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex., Mascibroda LG, Shboul M, Elrod ND, Colleaux L, Hamamy H, Huang KL, Peart N, Singh MK, Lee H, Merriman B, Jodoin JN, Sitaram P, Lee LA, Fathalla R, Al-Rawashdeh B, Ababneh O, El-Khateeb M, Escande-Beillard N, Nelson SF, Wu Y, Tong L, Kenney LJ, Roy S, Russell WK, Amiel J, Reversade B, Wagner EJ., Nat Commun. October 13, 2022; 13 (1): 6054. |
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WDR5 regulates left-right patterning via chromatin-dependent and -independent functions., Kulkarni SS, Khokha MK., Development. November 28, 2018; 145 (23): |
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Folate-dependent methylation of septins governs ciliogenesis during neural tube closure., Toriyama M, Toriyama M, Wallingford JB, Finnell RH., FASEB J. August 1, 2017; 31 (8): 3622-3635. |
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Roles of the cilium-associated gene CCDC11 in left-right patterning and in laterality disorders in humans., Gur M, Cohen EB, Genin O, Fainsod A, Perles Z, Cinnamon Y., Int J Dev Biol. January 1, 2017; 61 (3-4-5): 267-276. |
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Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy., Duncan AR, Khokha MK., Semin Cell Dev Biol. March 1, 2016; 51 73-9. |
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RFX7 is required for the formation of cilia in the neural tube., Manojlovic Z, Earwood R, Kato A, Stefanovic B, Kato Y., Mech Dev. May 1, 2014; 132 28-37. |
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