Browsing by Author Hernandez-Hernandez, V

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Showing results 1 to 7 of 7
Issue DateTitleAuthor(s)
2015Advances in the understanding of the BBSome complex structure and functionJenkins, D; Hernandez-Hernandez, V
2013Bardet–Biedl syndrome proteins control the cilia length through regulation of actin polymerizationHernandez-Hernandez, V; Pravincumar, P; Diaz-Font, A; May-Simera, H; Jenkins, D; Knight, M; Beales, PL
2019CiliaCarta: An integrated and validated compendium of ciliary genesvan Dam, MA; Kennedy, J; van der Lee, R; de Vrieze, E; Wunderlich, KA; Rix, S; Dougherty, GW; Lambacher, NJ; Li, C; Jensen, VL; Leroux, MR; Hjeij, R; Horn, N; Texier, Y; Wissinger, Y; van Reeuwijk, J; Wheway, G; Knapp, B; Scheel, JF; Franco, B; Mans, D; van Wijk, E; Képès, F; Slaats, GG; Toedt, G; Kremer, H; Omran, H; Szymanska, K; Koutroumpas, K; Ueffing, M; Nguyen, TMT; Letteboer, SJF; Oud, MM; van Beersum, SEC; Schmidts, M; Beales, PL; Lu, Q; Giles, RH; Szklarczyk, R; Russell, RB; Gibson, TJ; Johnson, CA; Blacque, OE; Wolfrum, U; Boldt, K; Roepman, R; Hernandez-Hernandez, V; Huynen, MA
16-Mar-2017COLEC10 is mutated in 3MC patients and regulates early craniofacial developmentMunye, MM; Diaz-Font, A; Ocaka, L; Henriksen, ML; Lees, M; Brady, A; Jenkins, D; Morton, J; Hansen, SW; Bacchelli, C; Beales, PL; Hernandez-Hernandez, V
4-Feb-2014Loss of FTO Antagonises Wnt Signaling and Leads to Developmental Defects Associated with CiliopathiesOsborn, DPS; Roccasecca, RM; McMurray, F; Hernandez-Hernandez, V; Mukherjee, S; Barroso, I; Stemple, D; Cox, R; Beales, PL; Christou-Savina, S
2011Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndromeRooryck, C; Diaz-Font, A; Osborn, DPS; Chabchoub, E; Hernandez-Hernandez, V; Shamseldin, H; Kenny, J; Waters, A; Jenkins, D; Kaissi, AA; Leal, GF; Dallapiccola, B; Carnevale, F; Bitner-Glindzicz, M; Lees, M; Hennekam, R; Stanier, P; Burns, AJ; Peeters, H; Alkuraya, FS; Beales, PL
1-Mar-2019Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant MiceVisual Phenotype in Bardet-Biedl Syndrome MiceKretschmer, V; Patnaik, SR; Kretschmer, F; Chawda, MM; Hernandez-Hernandez, V; May-Simera, HL