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A

Audo, Isabelle and Bujakowska, Kinga and Orhan, Elise and Poloschek, Charlotte M. and Defoort-Dhellemmes, Sabine and Drumare, Isabelle and Kohl, Susanne and Luu, Tien D. and Lecompte, Odile and Zrenner, Eberhart and Lancelot, Marie-Elise and Antonio, Aline and Germain, Aurore and Michiels, Christelle and Audier, Claire and Letexier, Melanie and Saraiva, Jean-Paul and Leroy, Bart P. and Munier, Francis L. and Mohand-Said, Saddek and Lorenz, Birgit and Friedburg, Christoph and Preising, Markus and Kellner, Ulrich and Renner, Agnes B. and Moskova-Doumanova, Veselina and Berger, Wolfgang and Wissinger, Bernd and Hamel, Christian R. and Schorderet, Daniel F. and De Baere, Elfride and Sharon, Dror and Banin, Eyal and Jacobson, Samuel G. and Bonneau, Dominique and Zanlonghi, Xavier and Le Meur, Guylene and Casteels, Ingele and Koenekoop, Robert and Long, Vernon W. and Meire, Francoise and Prescott, Katrina and de Ravel, Thomy and Simmons, Ian and Nguyen, Hoan and Dollfus, Helene and Poch, Olivier and Leveillard, Thierry and Nguyen-Ba-Charvet, Kim and Sahel, Jose-Alain and Bhattacharya, Shomi S. and Zeitz, Christina (2012) Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness. AMERICAN JOURNAL OF HUMAN GENETICS, 90 (2). pp. 321-330. ISSN 0002-9297

Audo, Isabelle and Kohl, Susanne and Leroy, Bart P. and Munier, Francis L. and Guillonneau, Xavier and Mohand-Said, Saddek and Bujakowska, Kinga and Nandrot, Emeline F. and Lorenz, Birgit and Preising, Markus and Kellner, Ulrich and Renner, Agnes B. and Bernd, Antje and Antonio, Aline and Moskova-Doumanova, Veselina and Lancelot, Marie-Elise and Poloschek, Charlotte M. and Drumare, Isabelle and Defoort-Dhellemmes, Sabine and Wissinger, Bernd and Leveillard, Thierry and Hamel, Christian P. and Schorderet, Daniel F. and De Baere, Elfride and Berger, Wolfgang and Jacobson, Samuel G. and Zrenner, Eberhart and Sahel, Jose-Alain and Bhattacharya, Shomi S. and Zeitz, Christina (2009) TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. AMERICAN JOURNAL OF HUMAN GENETICS, 85 (5). pp. 720-729. ISSN 0002-9297, 1537-6605

L

Langmann, Thomas and Di Gioia, Silvio Alessandro and Rau, Isabella and Stoehr, Heidi and Maksimovic, Nela S. and Corbo, Joseph C. and Renner, Agnes B. and Zrenner, Eberhart and Kumaramanickavel, Govindasamy and Karlstetter, Marcus and Arsenijevic, Yvan and Weber, Bernhard H. F. and Gal, Andreas and Rivolta, Carlo (2010) Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa. AMERICAN JOURNAL OF HUMAN GENETICS, 87 (3). pp. 376-381. ISSN 0002-9297, 1537-6605

M

Meindl, A. and Carvalho, M. R. S. and Lorenz, B. and Achatz, H. and Herrmann, K. and Lichtner, P. and Ross, M. and Meitinger, T. (1995) Cloning of candidate genes for X-linked retinitis pigmentosa. AMERICAN JOURNAL OF HUMAN GENETICS, 57 (4suppl). A265. ISSN 0002-9297, 1537-6605

O

Obermaierkusser, B. and Lorenz, B. and Schubring, S. and Paprotta, A. and Zerres, K. and Meitinger, T. and Meire, F. and Cochaux, P. and Blankenagel, A. and Kommerell, G. and Jaksch, M. and Gerbitz, K. D. (1994) FEATURES OF MTDNA MUTATION PATTERNS IN EUROPEAN PEDIGREES AND SPORADIC CASES WITH LEBER HEREDITARY OPTIC NEUROPATHY. AMERICAN JOURNAL OF HUMAN GENETICS, 55 (5). pp. 1063-1066. ISSN 0002-9297, 1537-6605

P

Pauly, Diana and Agarwal, Divyansh and Dana, Nicholas and Schaefer, Nicole and Biber, Josef and Wunderlich, Kirsten A. and Jabri, Yassin and Straub, Tobias and Zhang, Nancy R. and Gautam, Avneesh K. and Weber, Bernhard H. F. and Hauck, Stefanie M. and Kim, Mijin and Curcio, Christine A. and Stambolian, Dwight and Li, Mingyao and Grosche, Antje (2019) Cell-Type-Specific Complement Expression in the Healthy and Diseased Retina. CELL REPORTS, 29 (9). 2835-+. ISSN 2211-1247