Items where Division is "Medicine > Abteilung für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik" and Year is 2008

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Lorenz, Birgit and Poliakov, Eugenia and Schambeck, Maria and Friedburg, Christoph and Preising, Markus N. and Redmond, T. Michael (2008) A Comprehensive Clinical and Biochemical Functional Study of a Novel RPE65 Hypomorphic Mutation. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 49 (12). pp. 5235-5242. ISSN 0146-0404

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Neidhardt, John and Glaus, Esther and Lorenz, Birgit and Netzer, Christian and Li, Yuen and Schambeck, Maria and Wittmer, Mariana and Feil, Silke and Kirschner-Schwabe, Renate and Rosenberg, Thomas and Cremers, Frans P. M. and Bergen, Arthur A. B. and Barthelmes, Daniel and Baraki, Husnia and Schmid, Fabian and Tanner, Gaby and Fleischhauer, Johannes and Orth, Ulrike and Becker, Christian and Wegscheider, Erika and Nuernberg, Gudrun and Nuernberg, Peter and Bolz, Hanno Joern and Gal, Andreas and Berger, Wolfgang (2008) Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. MOLECULAR VISION, 14 (129). pp. 1081-1093. ISSN 1090-0535

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Schmidt-Kastner, Rainald and Yamamoto, Hideo and Hamasaki, Duco and Yamamoto, Hiroko and Parel, Jean-Marie and Schmitz, Christoph and Dorey, C. Kathy and Blanks, Janet C. and Preising, Markus N. (2008) Hypoxia-regulated components of the U4/U6.U5 tri-small nuclear riboprotein complex: possible role in autosomal dominant retinitis pigmentosa. MOLECULAR VISION, 14 (16-17). pp. 125-135. ISSN 1090-0535