Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa

por Kuehlewein, Laura, Zobor, Ditta, Stingl, Katarina, Kempf, Melanie, Nasser, Fadi, Bernd, Antje, Biskup, Saskia, Cremers, Frans P.M., Khan, Muhammad Imran, Mazzola, Pascale, Schäferhoff, Karin, Heinrich, Tilman, Haack, Tobias B., Wissinger, Bernd, Zrenner, Eberhart, Weisschuh, Nicole, Kohl, Susanne
Publicado 2021

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

por Weisschuh, Nicole, Mayer, Anja K., Strom, Tim M., Kohl, Susanne, Glöckle, Nicola, Schubach, Max, Andreasson, Sten, Bernd, Antje, Birch, David G., Hamel, Christian P., Heckenlively, John R., Jacobson, Samuel G., Kamme, Christina, Kellner, Ulrich, Kunstmann, Erdmute, Maffei, Pietro, Reiff, Charlotte M., Rohrschneider, Klaus, Rosenberg, Thomas, Rudolph, Günther, Vámos, Rita, Varsányi, Balázs, Weleber, Richard G., Wissinger, Bernd
Publicado 2016