Einträge von Kohl, Susanne auf dem Publikationsserver

Bellingrath, Julia-Sophia, Ochakovski, G. Alex, Seitz, Immanuel P., Kohl, Susanne , Zrenner, Eberhart, Hanig, Nicola, Prokisch, Holger , Weber, Bernhard H., Downes, Susan M., Ramsden, Simon, MacLaren, Robert E. und Fischer, M. Dominik (2017) High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa. Investigative Opthalmology & Visual Science 58 (11), S. 4457. Volltext nicht vorhanden.

Zobor, Ditta, Zrenner, Eberhart, Wissinger, Bernd, Kohl, Susanne und Jägle, Herbert (2014) GUCY2D- OR GUCA1A-RELATED AUTOSOMAL DOMINANT CONE–ROD DYSTROPHY. Retina 34 (8), S. 1576-1587. Volltext nicht vorhanden.

den Hollander, Anneke I., Zobor, Ditta , Kohl, Susanne, Wissinger, Bernd, Zrenner, Eberhart und Jägle, Herbert (2012) Rod and Cone Function in Patients with KCNV2 Retinopathy. PLoS ONE 7 (10), e46762. Volltext nicht vorhanden.

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.

Audo, Isabelle, Kohl, Susanne , Leroy, Bart P., Munier, Francis L., Guillonneau, Xavier , Mohand-Saïd, Saddek, Bujakowska, Kinga , Nandrot, Emeline F., Lorenz, Birgit, Preising, Markus, Kellner, Ulrich, Renner, Agnes B., Bernd, Antje, Antonio, Aline, Moskova-Doumanova, Veselina, Lancelot, Marie-Elise, Poloschek, Charlotte M., Drumare, Isabelle, Defoort-Dhellemmes, Sabine, Wissinger, Bernd, Léveillard, Thierry, Hamel, Christian P., Schorderet, Daniel F., De Baere, Elfride , Berger, Wolfgang, Jacobson, Samuel G. , Zrenner, Eberhart, Sahel, José-Alain , Bhattacharya, Shomi S. und Zeitz, Christina (2009) TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. The American Journal of Human Genetics 85 (5), S. 720-729. 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.

Kohl, Susanne , Baumann, Britta, Rosenberg, Thomas, Kellner, Ulrich, Lorenz, Birgit, Vadalà, Maria, Jacobson, Samuel G. und Wissinger, Bernd (2002) Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia. The American Journal of Human Genetics 71 (2), S. 422-425. 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.