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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. and Kellner, Ulrich
(2020)
Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.
International Journal of Molecular Sciences 21 (24), p. 9353.
Fulltext not available.
(2017)
fMRI with Central Vision Loss: Effects of Fixation Locus and Stimulus Type.
Optometry and Vision Science 94 (3), pp. 297-310.
Fulltext not available.
, Marmor, Michael F., Kellner, Ulrich, Thompson, Dorothy A.
, Renner, Agnes B., Moore, William and Sowden, Jane C.
(2012)
FOVEAL CAVITATION AS AN OPTICAL COHERENCE TOMOGRAPHY FINDING IN CENTRAL CONE DYSFUNCTION.
Retina 32 (7), pp. 1411-1419.
Fulltext not available.
(2012)
Neural correlates of visual search in patients with hereditary retinal dystrophies.
Human Brain Mapping 34 (10), pp. 2607-2623.
Fulltext not available.
, 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.
and 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), pp. 321-330.
Fulltext not available.
(2011)
Gray matter alterations in visual cortex of patients with loss of central vision due to hereditary retinal dystrophies.
NeuroImage 56 (3), pp. 1556-1565.
Fulltext not available.
, Renner, Agnes B., Zrenner, Eberhart, Kumaramanickavel, G., Karlstetter, Marcus, Arsenijevic, Y., Weber, Bernhard H. F.
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(2010)
Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.
American Journal of Human Genetics 87, pp. 376-381.
Fulltext not available.
and 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, pp. 907-912.
Fulltext not available.
, 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.
and Zeitz, Christina
(2009)
TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness.
The American Journal of Human Genetics 85 (5), pp. 720-729.
Fulltext not available.
, van den Hurk, José A.J.M., Cremers, Frans P.M.
and Foerster, Michael H.
(2006)
Choroideremia: Variability of Clinical and Electrophysiological Characteristics and First Report of a Negative Electroretinogram.
Ophthalmology 113 (11), 2066-2073.e2.
Fulltext not available.
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