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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 3
Zeitschriftenartikel
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; Catala-Mora, Jaume; De Baere, Elfride; Dollfus, Helene; Falana, Mohammed; Giorda, Roberto; Golovleva, Irina; Gottlob, Irene; Heckenlively, John R.; Jacobson, Samuel G.; Jones, Kaylie; Jaegle, Herbert; Janecke, Andreas R.; Kellner, Ulrich; Liskova, Petra; Lorenz, Birgit; Martorell-Sampol, Loreto; Messias, Andre; Meunier, Isabelle; Belga Ottoni Porto, Fernanda; Papageorgiou, Eleni; Plomp, Astrid S.; de Ravel, Thomy J. L.; Reiff, Charlotte M.; Renner, Agnes B.; Rosenberg, Thomas; Rudolph, Guenther; Salati, Roberto; Sener, E. Cumhur; Sieving, Paul A.; Stanzial, Franco; Traboulsi, Elias I.; Tsang, Stephen H.; Varsanyi, Balazs; Weleber, Richard G.; Zobor, Ditta; Stingl, Katarina; Wissinger, Bernd und Kohl, Susanne
(2022):
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
In: Human Mutation, Bd. 43, Nr. 7: S. 832-858
Weisschuh, Nicole; Sturm, Marc; Baumann, Britta; Audo, Isabelle; Ayuso, Carmen; Bocquet, Beatrice; Branham, Kari; Brooks, Brian P.; Catala-Mora, Jaume; Giorda, Roberto; Heckenlively, John R.; Hufnagel, Robert B.; Jacobson, Samuel G.; Kellner, Ulrich; Kitsiou-Tzeli, Sofia; Matet, Alexandre; Sampol, Loreto Martorell; Meunier, Isabelle; Rudolph, Gunther; Sharon, Dror; Stingl, Katarina; Streubel, Berthold; Varsanyi, Balazs; Wissinger, Bernd und Kohl, Susanne
(2019):
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
In: Human Mutation, Bd. 41, Nr. 1: S. 255-264
Burkard, Markus; Kohl, Susanne; Kratzig, Timm; Tanimoto, Naoyuki; Brennenstuhl, Christina; Bausch, Anne E.; Junger, Katrin; Reuter, Peggy; Sothilingam, Vithiyanjali; Beck, Susanne C.; Huber, Gesine; Ding, Xi-Qin; Mayer, Anja K.; Baumann, Britta; Weisschuh, Nicole; Zobor, Ditta; Hahn, Gesa-Astrid; Kellner, Ulrich; Venturelli, Sascha; Becirovic, Elvir; Charbel Issa, Peter; Koenekoop, Robert K.; Rudolph, Gunther; Heckenlively, John; Sieving, Paul; Weleber, Richard G.; Hamel, Christian; Zong, Xiangang; Biel, Martin; Lukowski, Robert; Seeliger, Matthias W.; Michalakis, Stylianos; Wissinger, Bernd und Ruth, Peter
(2018):
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.
In: The Journal of Clinical Investigation, Bd. 128, Nr. 12: S. 5663-5675