Search Results - Klevering, B. Jeroen

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis by Siemiatkowska, Anna (Author) , van den Born, L. Ingeborgh (Author) , van Genderen, Maria M. (Author) , Bertelsen, Mette (Author) , Zobor, Ditta (Author) , Rohrschneider, Klaus (Author) , van Huet, Ramon A.C. (Author) , Nurohmah, Siska (Author) , Klevering, B. Jeroen (Author) , Kohl, Susanne (Author) , Faradz, Sultana M.H. (Author) , Rosenberg, Thomas (Author) , den Hollander, Anneke I. (Author) , Collin, Rob W.J. (Author) , Cremers, Frans P.M. (Author) ,

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Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy by Maugeri, Alessandra (Author) , Klevering, B. Jeroen (Author) , Rohrschneider, Klaus (Author) , Blankenagel, Anita (Author) , Brunner, Han G. (Author) , Deutman, August F. (Author) , Hoyng, Carel B. (Author) , Cremers, Frans P. M. (Author) ,

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The 2588G→C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Starga... by Maugeri, Alessandra (Author) , Driel, Marc A. van (Author) , Pol, Dorien J. R. van de (Author) , Klevering, B. Jeroen (Author) , Haren, Frank J. J. van (Author) , Tijmes, Nel (Author) , Bergen, Arthur A. B. (Author) , Rohrschneider, Klaus (Author) , Blankenagel, Anita (Author) , Pinckers, Alfred J. L. G. (Author) , Dahl, Niklas (Author) , Brunner, Han G. (Author) , Deutman, August F. (Author) , Hoyng, Carel B. (Author) , Cremers, Frans P. M. (Author) ,

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