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Cell|December 9, 1997
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptorC L Freund, C Y Gregory-Evans, T Furukawa, et al.Nature Genetics|November 4, 2000
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindnessN T Bech-Hansen, M J Naylor, T A Maybaum, et al.American Journal of Human Genetics|November 4, 2000
Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type IL M Astuto, M D Weston, C A Carney, et al.Nature Genetics|May 31, 2001
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4K Mykytyn, T Braun, R Carmi, et al.Human Molecular Genetics|April 4, 2001
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)D Y Nishimura, C C Searby, R Carmi, et al.American Journal of Human Genetics|September 6, 2001
CNGA3 mutations in hereditary cone photoreceptor disordersB Wissinger, D Gamer, H Jägle, et al.Pageof 13