Einträge von Poloschek, Charlotte M. 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.

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.

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.

Poloschek, Charlotte M., Fowler, Brian, Unsold, Renate und Lorenz, Birgit (2005) Disturbed visual system function in methionine synthase deficiency. Graefe's Archive for Clinical and Experimental Ophthalmology 243 (5), S. 497-500. Volltext nicht vorhanden.

Ragge, Nicola K., Brown, Alison G., Poloschek, Charlotte M., Lorenz, Birgit, Henderson, R. Alex, Clarke, Michael P., Russell-Eggitt, Isabelle, Fielder, Alistair, Gerrelli, Dianne, Martinez-Barbera, Juan Pedro , Ruddle, Piers, Hurst, Jane, Collin, J. Richard O., Salt, Alison, Cooper, Simon T., Thompson, Pamela J., Sisodiya, Sanjay M., Williamson, Kathleen A., FitzPatrick, David R. , Heyningen, Veronica van und Hanson, Isabel M. (2005) Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations. The American Journal of Human Genetics 76 (6), S. 1008-1022. Volltext nicht vorhanden.