Einträge von Friedburg, Christoph auf dem Publikationsserver

Audo, Isabelle , Bujakowska, Kinga , Orhan, Elise, Poloschek, Charlotte M., Defoort-Dhellemmes, Sabine, Drumare, Isabelle, Kohl, Susanne , Luu, Tien D., Lecompte, Odile , Zrenner, Eberhart, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Michiels, Christelle, Audier, Claire, Letexier, Mélanie, Saraiva, Jean-Paul, Leroy, Bart P., Munier, Francis L., Mohand-Saïd, Saddek, Lorenz, Birgit, Friedburg, Christoph, Preising, Markus, Kellner, Ulrich, Renner, Agnes B., Moskova-Doumanova, Veselina, Berger, Wolfgang, Wissinger, Bernd, Hamel, Christian P., Schorderet, Daniel F., De Baere, Elfride , Sharon, Dror , Banin, Eyal, Jacobson, Samuel G. , Bonneau, Dominique , Zanlonghi, Xavier, Le Meur, Guylene, Casteels, Ingele, Koenekoop, Robert, Long, Vernon W., Meire, Francoise, Prescott, Katrina, de Ravel, Thomy, Simmons, Ian, Nguyen, Hoan, Dollfus, Hélène, Poch, Olivier, Léveillard, Thierry, Nguyen-Ba-Charvet, Kim , Sahel, José-Alain , Bhattacharya, Shomi S. und Zeitz, Christina (2012) Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness. The American Journal of Human Genetics 90 (2), S. 321-330. Volltext nicht vorhanden.

Friedburg, Christoph, Wissinger, Bernd, Schambeck, Maria, Bonin, Michael, Kohl, Susanne und Lorenz, Birgit (2011) Long-Term Follow-Up of the Human Phenotype in Three Siblings with Cone Dystrophy Associated with a Homozygousp.G461RMutation ofKCNV2. Investigative Opthalmology & Visual Science 52 (12), S. 8621. Volltext nicht vorhanden.

Preising, Markus N., Wegscheider, Erika, Friedburg, Christoph, Poloschek, Charlotte M., Wabbels, Bettina K. und Lorenz, Birgit (2009) Fundus Autofluorescence in Carriers of Choroideremia and Correlation with Electrophysiologic and Psychophysical Data. Ophthalmology 116 (6), 1201-1209.e2. Volltext nicht vorhanden.

Lorenz, Birgit, Poliakov, Eugenia, Schambeck, Maria, Friedburg, Christoph, Preising, Markus N. und Redmond, T. Michael (2008) A Comprehensive Clinical and Biochemical Functional Study of a NovelRPE65Hypomorphic Mutation. Investigative Opthalmology & Visual Science 49 (12), S. 5235. Volltext nicht vorhanden.