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Number of items: 5.

Deveault, C; Billingsley, G; Duncan, J L; Bin, J; Theal, R; Vincent, A; Fieggen, K J; Gerth, C; Noordeh, N; Traboulsi, E I; Fishman, G A; Chitayat, D; Knueppel, T; Millan, J M; Munier, F L; Kennedy, D; Jacobson, S G; Innes, A M; Mitchell, G A; Boycott, K; Héon, E (2011). BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Human Mutation, 32(6):610-619.

Zuercher, J; Neidhardt, J; Magyar, I; Labs, S; Moore, A; Tanner, F C; Waseem, N; Schorderet, D F; Munier, F L; Bhattacharya, S; Berger, W; Kloeckener-Gruissem, B (2010). Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract. Investigative Ophthalmology and Visual Science, 51(7):3354-3361.

Michaelides, M; Gaillard, M C; Escher, P; Tiab, L; Bedell, M; Borruat, F X; Barthelmes, D; Carmona, R; Zhang, K; White, E; McClements, M; Robson, A G; Holder, G E; Bradshaw, K; Hunt, D M; Webster, A R; Moore, A T; Schorderet, D F; Munier, F L (2010). The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. Investigative Ophthalmology and Visual Science, 51(9):4771-4780.

Zeitz, C; Labs, S; Lorenz, B; Forster, U; Üksti, J; Kroes, H Y; De Baere, E; Leroy, B P; Cremers, F P M; Wittmer, M; van Genderen, M M; Sahel, J A; Audo, I; Poloschek, C M; Mohand-Said, S; Fleischhauer, J C; Hüffmeier, U; Moskova-Doumanova, V; Levin, A V; Hamel, C P; Leifert, D; Munier, F L; Schorderet, D F; Zrenner, E; Friedburg, C; Wissinger, B; Kohl, S; Berger, W (2009). Genotyping Microarray for CSNB-Associated Genes. Investigative Ophthalmology and Visual Science, 12(50):5919-5926.

Audo, I; Kohl, S; Leroy, B P; Munier, F L; Guillonneau, X; Mohand-Saïd, S; Bujakowska, K; Nandrot, E; Lorenz, B; Preising, M; Kellner, U; Renner, A; Bernd, A; Antonio, A; Moskova-Doumanova, V; Lancelot, M E; Poloschek, C M; Drumare, I; Defoort-Dhellemmes, S; Wissinger, B; Léveillard, T; Hamel, C P; Schorderet, D F; De Baere, E; Berger, W; Jacobson, S G; Zrenner, E; Sahel, J A; Bhattacharya, S S; Zeitz, C (2009). TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. American Journal of Human Genetics, 85(5):720-729.

This list was generated on Thu Jul 27 15:41:57 2017 CEST.