Showing 1 - 10 results of 10 for search 'Bernd Wissinger', query time: 0.80s
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Clinical Characteristics of <i>POC1B</i>-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants by Nicole Weisschuh, Pascale Mazzola, Miriam Bertrand, Tobias B. Haack, Bernd Wissinger, Susanne Kohl, Katarina Stingl
Published 2021-05-01
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Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants by Pietro De Angeli, Arturo Flores-Tufiño, Katarina Stingl, Laura Kühlewein, Eleonora Roschi, Bernd Wissinger, Susanne Kohl
Published 2024-03-01
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Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with <i>CNGA3</i>-Associated Autosomal Recessive Achromatopsia by Susanne Kohl, Britta Baumann, Francesca Dassie, Anja K. Mayer, Maria Solaki, Peggy Reuter, Laura Kühlewein, Bernd Wissinger, Pietro Maffei
Published 2021-07-01
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Genetic background modulates phenotypic expressivity in OPA1 mutated mice, relevance to DOA pathogenesis by Djamaa Atamena, Venu Gurram, Petnoï Petsophonsakul, Farnoosh Khosrobakhsh, Farnoosh Khosrobakhsh, Macarena S. Arrázola, Marlène Botella, Bernd Wissinger, Marion Szelechowski, Pascale Belenguer
Published 2023-09-01
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Novel <i>OPN1LW/OPN1MW</i> Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction by Katarina Stingl, Britta Baumann, Pietro De Angeli, Ajoy Vincent, Elise Héon, Monique Cordonnier, Elfriede De Baere, Salmo Raskin, Mario Teruo Sato, Naoye Shiokawa, Susanne Kohl, Bernd Wissinger
Published 2022-06-01
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Clinical Phenotype of <i>PDE6B</i>-Associated Retinitis Pigmentosa by Laura Kuehlewein, Ditta Zobor, Katarina Stingl, Melanie Kempf, Fadi Nasser, Antje Bernd, Saskia Biskup, Frans P.M. Cremers, Muhammad Imran Khan, Pascale Mazzola, Karin Schäferhoff, Tilman Heinrich, Tobias B. Haack, Bernd Wissinger, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl
Published 2021-02-01
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