Publikationen von 0000-0002-4954-5592
(ORCID: 0000-0002-4954-5592)

Renner, Agnes B., Kellner, Ulrich, Cropp, Elke, Preising, Markus N., MacDonald, Ian M. , van den Hurk, José A.J.M., Cremers, Frans P.M. und Foerster, Michael H. (2006) Choroideremia: Variability of Clinical and Electrophysiological Characteristics and First Report of a Negative Electroretinogram. Ophthalmology 113 (11), 2066-2073.e2. Volltext nicht vorhanden.

Kohl, Susanne , Varsanyi, Balazs, Antunes, Gesine Abadin, Baumann, Britta, Hoyng, Carel B, Jägle, Herbert, Rosenberg, Thomas, Kellner, Ulrich, Lorenz, Birgit, Salati, Roberto, Jurklies, Bernhard, Farkas, Agnes, Andreasson, Sten, Weleber, Richard G, Jacobson, Samuel G , Rudolph, Günther, Castellan, Claudio, Dollfus, Helene, Legius, Eric, Anastasi, Mario, Bitoun, Pierre , Lev, Dorit, Sieving, Paul A, Munier, Francis L, Zrenner, Eberhart, Sharpe, Lindsay T, Cremers, Frans P M und Wissinger, Bernd (2005) CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. European Journal of Human Genetics 13 (3), S. 302-308. Volltext nicht vorhanden.

Zernant, Jana, Ku¨lm, Maigi, Dharmaraj, Sharola, den Hollander, Anneke I., Perrault, Isabelle, Preising, Markus N., Lorenz, Birgit, Kaplan, Josseline, Cremers, Frans P. M. , Maumenee, Irene, Koenekoop, Robert K. und Allikmets, Rando (2005) Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles. Investigative Opthalmology & Visual Science 46 (9), S. 3052. Volltext nicht vorhanden.

Wissinger, Bernd, Gamer, Daphne, Jägle, Herbert, Giorda, Roberto , Marx, Tim, Mayer, Simone, Tippmann, Sabine, Broghammer, Martina, Jurklies, Bernhard, Rosenberg, Thomas, Jacobson, Samuel G. , Sener, E. Cumhur, Tatlipinar, Sinan, Hoyng, Carel B., Castellan, Claudio, Bitoun, Pierre , Andreasson, Sten, Rudolph, Günter, Kellner, Ulrich, Lorenz, Birgit, Wolff, Gerhard, Verellen-Dumoulin, Christine, Schwartz, Marianne, Cremers, Frans P.M. , Apfelstedt-Sylla, Eckart, Zrenner, Eberhart, Salati, Roberto, Sharpe, Lindsay T. und Kohl, Susanne (2001) CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders. The American Journal of Human Genetics 69 (4), S. 722-737. Volltext nicht vorhanden.