1. Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. Issue 7 (14th April 2022) Authors: 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; Gio... Journal: Human mutation Issue: Volume 43:Issue 7(2022) Page Start: 832 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period. Issue 9 (29th June 2020) Authors: Weisschuh, Nicole; Obermaier, Carolin D.; Battke, Florian; Bernd, Antje; Kuehlewein, Laura; Nasser, Fadi; Zobor, Ditta; Zrenner, Eberhart; Weber, Eva; Wissinger, Bernd; Biskup, Saskia; Stingl, Katarina; Kohl, Susanne Journal: Human mutation Issue: Volume 41:Issue 9(2020) Page Start: 1514 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family. (2nd January 2018) Authors: Feldhaus, Britta; Kohl, Susanne; Hörtnagel, Konstanze; Weisschuh, Nicole; Zobor, Ditta Journal: Ophthalmic genetics Issue: Volume 39:Number 1(2018) Page Start: 131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Novel insights into the molecular pathogenesis of CYP4V2‐associated Bietti's retinal dystrophy. Issue 1 (15th September 2014) Authors: Astuti, Galuh D. N.; Sun, Vincent; Bauwens, Miriam; Zobor, Ditta; Leroy, Bart P.; Omar, Amer; Jurklies, Bernhard; Lopez, Irma; Ren, Huanan; Yazar, Volkan; Hamel, Christian; Kellner, Ulrich; Wissinger, Bernd; Kohl, Susanne; De Baere, Elfride; Collin, Rob W. J.; Koenekoop, Robert K. Journal: Molecular genetics & genomic medicine Issue: Volume 3:Issue 1(2015:Jan.) Page Start: 14 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene. (27th November 2014) Authors: Hipp, Stephanie; Zobor, Gergely; Glöckle, Nicola; Mohr, Julia; Kohl, Susanne; Zrenner, Eberhart; Weisschuh, Nicole; Zobor, Ditta Journal: Acta ophthalmologica Issue: Volume 93:Number 4(2015) Page Start: e281 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Three-year results of phase I retinal gene therapy trial for CNGA3-mutated achromatopsia: results of a non randomised controlled trial. Issue 11 (18th May 2021) Authors: Reichel, Felix Friedrich; Michalakis, Stylianos; Wilhelm, Barbara; Zobor, Ditta; Muehlfriedel, Regine; Kohl, Susanne; Weisschuh, Nicole; Sothilingam, Vithiyanjali; Kuehlewein, Laura; Kahle, Nadine; Seitz, Immanuel; Paquet-Durand, Francois; Tsang, Stephen H; Martus, Peter; Peters, Tobias; Seeliger... Journal: British journal of ophthalmology Issue: Volume 106:Issue 11(2022) Page Start: 1567 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Usher Syndrome and Color Vision. (3rd October 2018) Authors: Kurtenbach, Anne; Hahn, Gesa; Kernstock, Christoph; Hipp, Stephanie; Zobor, Ditta; Stingl, Katarina; Kohl, Susanne; Bonnet, Crystel; Mohand-Saïd, Saddek; Sliesoraityte, Ieva; Sahel, José-Alain; Audo, Isabelle; Fakin, Ana; Hawlina, Marko; Testa, Francesco; Simonelli, Francesca; Petit, Christine; Z... Journal: Current eye research Issue: Volume 43:Number 10(2018) Page Start: 1295 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Visual cortex organisation in a macaque monkey with macular degeneration. Issue 10 (23rd August 2013) Authors: Shao, Yibin; Keliris, Georgios A.; Papanikolaou, Amalia; Fischer, M. Dominik; Zobor, Ditta; Jägle, Herbert; Logothetis, Nikos K.; Smirnakis, Stelios M. Journal: European journal of neuroscience Issue: Volume 38:Issue 10(2013:Nov.) Page Start: 3456 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗