Items where Author is "Rohrschneider, Klaus"

Article

Neuhaus, Christine and Eisenberger, Tobias and Decker, Christian and Nagl, Sandra and Blank, Cornelia and Pfister, Markus and Kennerknecht, Ingo and Mueller-Hofstede, Cornelie and Issa, Peter Charbel and Heller, Raoul and Beck, Bodo and Ruether, Klaus and Mitter, Diana and Rohrschneider, Klaus and Steinhauer, Ute and Korbmacher, Heike M. and Huhle, Dagmar and Elsayed, Solaf M. and Taha, Hesham M. and Baig, Shahid M. and Stoehr, Heidi and Preising, Markus and Markus, Susanne and Moeller, Fabian and Lorenz, Birgit and Nagel-Wolfrum, Kerstin and Khan, Arif O. and Bolz, Hanno J. (2017) Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. MOLECULAR GENETICS & GENOMIC MEDICINE, 5 (5). pp. 531-552. ISSN 2324-9269

Kraemer, Franziska and White, Karen and Pauleikhoff, Daniel and Gehrig, Andrea and Passmore, Lori and Rivera, Andrea and Rudolph, Günther and Kellner, Ulrich and Andrassi, Monika and Lorenz, Birgit and Rohrschneider, Klaus and Blankenagel, Anita and Jurklies, Bernhard and Schilling, Harald and Schutt, Florian and Holz, Frank G. and Weber, Bernhard H. F. (2000) Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. EUROPEAN JOURNAL OF HUMAN GENETICS, 8 (4). pp. 286-292. ISSN 1018-4813