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Nature Genetics|August 24, 2004
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouseHeather M Kulaga, Carmen C Leitch, Erica R Eichers, et al.
Scientific Reports|July 2, 2024
Impact of Bariatric Surgery on metabolic health in a Uruguayan cohort and the emerging predictive role of FSTL1Leonardo Santos, Mariana Patrone, Victoria Prieto-Echagüe, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 26, 2010
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndromeNorann A Zaghloul, Yangjian Liu, Jantje M Gerdes, et al.
Scientific Reports|February 16, 2018
Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28BRossina Novas, Magdalena Cardenas-Rodriguez, Paola Lepanto, et al.
Nature Genetics|October 2, 2007
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt responseJantje M Gerdes, Yangfan Liu, Norann A Zaghloul, et al.
American Journal of Human Genetics|April 5, 2003
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndromePhilip L Beales, Jose L Badano, Alison J Ross, et al.
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