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, Hufendiek, Katerina
, Jägle, Herbert, Stöhr, Heidi, Book, Marius
, Spital, Georg, Rustambayova, Günay, Framme, Carsten, Weber, Bernhard H. F., Renner, Agnes B. und Kellner, Ulrich
(2020)
Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.
International Journal of Molecular Sciences 21 (24), S. 9353.
Volltext nicht vorhanden.
(2017)
fMRI with Central Vision Loss: Effects of Fixation Locus and Stimulus Type.
Optometry and Vision Science 94 (3), S. 297-310.
Volltext nicht vorhanden.
, Marmor, Michael F., Kellner, Ulrich, Thompson, Dorothy A.
, Renner, Agnes B., Moore, William und Sowden, Jane C.
(2012)
FOVEAL CAVITATION AS AN OPTICAL COHERENCE TOMOGRAPHY FINDING IN CENTRAL CONE DYSFUNCTION.
Retina 32 (7), S. 1411-1419.
Volltext nicht vorhanden.
(2012)
Neural correlates of visual search in patients with hereditary retinal dystrophies.
Human Brain Mapping 34 (10), S. 2607-2623.
Volltext nicht vorhanden.
, 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.
(2011)
Gray matter alterations in visual cortex of patients with loss of central vision due to hereditary retinal dystrophies.
NeuroImage 56 (3), S. 1556-1565.
Volltext nicht vorhanden.
, Renner, Agnes B., Zrenner, Eberhart, Kumaramanickavel, G., Karlstetter, Marcus, Arsenijevic, Y., Weber, Bernhard H. F.
, make_name_string expected hash reference und make_name_string expected hash reference
(2010)
Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.
American Journal of Human Genetics 87, S. 376-381.
Volltext nicht vorhanden.
und Kellner, U.
(2009)
Progression of Retinal Pigment Epithelial Alterations During Long-term Follow-up in Female Carriers of Choroideremia and Report of a Novel CHM Mutation.
Acta Ophthalmologica 127, S. 907-912.
Volltext nicht vorhanden.
, 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.
, 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.
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