Showing 1 - 4 results of 4 for search 'Bernd Wissinger', query time: 0.01s Refine Results
  1. 1
    Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.

    Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants. by Nicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, Sinja Kieninger, Ting Xiao, Ulrich Kellner, Teresa Neuhann, Carina Kelbsch, Felix Tonagel, Helmut Wilhelm, Susanne Kohl, Bernd Wissinger

    Published 2021-01-01
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  2. 2
    Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies

    Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies by Lasse Wolfram, David A. Merle, Laura Kühlewein, Milda Reith, Melanie Kempf, Krunoslav Stingl, Tobias Haack, Pascale Mazzola, Karin Poths, Nicole Weisschuh, Bernd Wissinger, Susanne Kohl, Katarina Stingl

    Published 2025-04-01
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  3. 3
    Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.

    Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. by Alessandro Achilli, Luisa Iommarini, Anna Olivieri, Maria Pala, Baharak Hooshiar Kashani, Pascal Reynier, Chiara La Morgia, Maria Lucia Valentino, Rocco Liguori, Fabio Pizza, Piero Barboni, Federico Sadun, Anna Maria De Negri, Massimo Zeviani, Helene Dollfus, Antoine Moulignier, Ghislaine Ducos, Christophe Orssaud, Dominique Bonneau, Vincent Procaccio, Beate Leo-Kottler, Sascha Fauser, Bernd Wissinger, Patrizia Amati-Bonneau, Antonio Torroni, Valerio Carelli

    Published 2012-01-01
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  4. 4
    Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

    Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. by Isabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, Susanne Kohl, Shiqiang Li, Francesco Testa, Renate Zekveld-Vroon, Xia Wang, Esther Pomares, Jean Andorf, Nisrine Aboussair, Sandro Banfi, Nathalie Delphin, Anneke I den Hollander, Catherine Edelson, Ralph Florijn, Marc Jean-Pierre, Corinne Leowski, Andre Megarbane, Cristina Villanueva, Blanca Flores, Arnold Munnich, Huanan Ren, Ditta Zobor, Arthur Bergen, Rui Chen, Frans P M Cremers, Roser Gonzalez-Duarte, Robert K Koenekoop, Francesca Simonelli, Edwin Stone, Bernd Wissinger, Qingjiong Zhang, Josseline Kaplan, Jean-Michel Rozet

    Published 2013-01-01
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