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Published in Proceedings of the National Academy of Sciences - PNAS (19.05.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (19.05.2015)
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Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing
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Published in PloS one (14.01.2016)
Published in PloS one (14.01.2016)
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Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1
Vocke, Farina, Weisschuh, Nicole, Marino, Valerio, Malfatti, Silvia, Jacobson, Samuel G, Reiff, Charlotte M, Dell'Orco, Daniele, Koch, Karl-Wilhelm
Published in Human molecular genetics (01.01.2017)
Published in Human molecular genetics (01.01.2017)
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Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
Williamson, Kathleen A., Hall, H. Nikki, Owen, Liusaidh J., Livesey, Benjamin J., Hanson, Isabel M., Adams, G., Bodek, Simon, Calvas, Patrick, Castle, Bruce, Clarke, Michael, Deng, Alexander T., Edery, Patrick, Fisher, Richard, Gillessen-Kaesbach, Gabriele, Heon, Elise, Hurst, Jane, Josifova, Dragana, Lorenz, Birgit, McKee, Shane, Meire, Francoise, Moore, Anthony T., Parker, Michael, Reiff, Charlotte M., Self, Jay, Tobias, Edward S., Verheij, Joke B., Willems, Marjolaine, Williams, Denise, van Heyningen, Veronica, Marsh, Joseph A., FitzPatrick, David R.
Published in Genetics in medicine (01.03.2020)
Published in Genetics in medicine (01.03.2020)
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Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
Solaki, Maria, Baumann, Britta, Reuter, Peggy, Andreasson, Sten, Audo, Isabelle, Ayuso, Carmen, Balousha, Ghassan, Benedicenti, Francesco, Birch, David, Bitoun, Pierre, Blain, Delphine, Bocquet, Beatrice, Branham, Kari, Català‐Mora, Jaume, De Baere, Elfride, Dollfus, Helene, Falana, Mohammed, Giorda, Roberto, Golovleva, Irina, Gottlob, Irene, Heckenlively, John R., Jacobson, Samuel G., Jones, Kaylie, Jägle, Herbert, Janecke, Andreas R., Kellner, Ulrich, Liskova, Petra, Lorenz, Birgit, Martorell‐Sampol, Loreto, Messias, André, Meunier, Isabelle, Belga Ottoni Porto, Fernanda, Papageorgiou, Eleni, Plomp, Astrid S., Ravel, Thomy J. L., Reiff, Charlotte M., Renner, Agnes B., Rosenberg, Thomas, Rudolph, Günther, Salati, Roberto, Sener, E. Cumhur, Sieving, Paul A., Stanzial, Franco, Traboulsi, Elias I., Tsang, Stephen H., Varsanyi, Balázs, Weleber, Richard G., Zobor, Ditta, Stingl, Katarina, Wissinger, Bernd, Kohl, Susanne
Published in Human mutation (01.07.2022)
Published in Human mutation (01.07.2022)
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Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness
Vincent, Ajoy, Audo, Isabelle, Tavares, Erika, Maynes, Jason T., Tumber, Anupreet, Wright, Thomas, Li, Shuning, Michiels, Christelle, Banin, Eyal, Bocquet, Beatrice, De Baere, Elfride, Casteels, Ingele, Defoort-Dhellemmes, Sabine, Drumare, Isabelle, Friedburg, Christoph, Gottlob, Irene, Jacobson, Samuel G., Kellner, Ulrich, Koenekoop, Robert, Kohl, Susanne, Leroy, Bart P., Lorenz, Birgit, McLean, Rebecca, Meire, Francoise, Meunier, Isabelle, Munier, Francis, de Ravel, Thomy, Reiff, Charlotte M., Mohand-Saïd, Saddek, Sharon, Dror, Schorderet, Daniel, Schwartz, Sharon, Zanlonghi, Xavier, Condroyer, Christel, MacDonald, Heather, Verdet, Robert, Sahel, José-Alain, Hamel, Christian P., Zeitz, Christina, Héon, Elise
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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