Browsing Universitätsbibliographie by Author "Nasser, Fadi"

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Browsing Universitätsbibliographie by Author "Nasser, Fadi"

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  • A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy : a case report
    Buena-Atienza, Elena; Nasser, Fadi; Kohl, Susanne; Wissinger, Bernd (2018)
  • Clinical phenotype of PDE6B-associated retinitis pigmentosa
    Kuehlewein, Laura; Zobor, Ditta; Stingl, Katarina; Kempf, Melanie; Nasser, Fadi; Bernd, Antje; Biskup, Saskia; Cremers, Frans P. M.; Khan, Muhammad Imran; Mazzola, Pascale; Schaeferhoff, Karin; Heinrich, Tilman; Haack, Tobias B.; Wissinger, Bernd; Zrenner, Eberhart; Weisschuh, Nicole; Kohl, Susanne (2021)
  • Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8
    Fujinami, Kaoru; Strauss, Rupert W.; Chiang, John (Pei-Wen); Audo, Isabelle S.; Bernstein, Paul S.; Birch, David G.; Bomotti, Samantha M.; Cideciyan, Artur V.; Ervin, Ann-Margret; Marino, Meghan J.; Sahel, Jose-Alain; Mohand-Said, Saddek; Sunness, Janet S.; Traboulsi, Elias I.; West, Sheila; Wojciechowski, Robert; Zrenner, Eberhart; Michaelides, Michel; Scholl, Hendrik P. N.; Wolfson, Yulia; Bittencourt, Millena; Shah, Syed Mahmood; Ahmed, Mohamed; Schonbach, Etienne; Ehlers, Justis; Marino, Meghan; Crowe, Susan; Briggs, Rachael; Borer, Angela; Pinter, Anne; Fecko, Tami; Burgnoni, Nikki; Applegate, Carol; Russell, Leslie; Esposti, Simona Degli; Moore, Anthony; Webster, Andrew; Connor, Sophie; Barnfield, Jade; Salchi, Zaid; Alfageme, Clara; McCudden, Victoria; Pefkianaki, Maria; Aboshiha, Jonathan; Liew, Gerald; Holder, Graham; Robson, Anthony; King, Alexa; Narvaez, Daniela Ivanova Cajas; Barnard, Katy; Grigg, Catherine; Dunbar, Hannah; Obadeyi, Yetunde; Girard-Claudon, Karine; Swann, Hilary; Rughani, Avani; Amoah, Charles; Carrington, Dominic; Bibi, Kanom; Tingco, Emerson; Illiyas, Mohamed Nafaz; Begum, Hamida; Carter, Andrew; Georgiou, Anne; Lewis, Selma; Shaheen, Saddaf; Shinmar, Harpreet; Burton, Linda; Bernstein, Paul; Wegner, Kimberley; Sawyer, Briana Lauren; Carlstrom, Bonnie; Farnsworth, Kellian; Fry, Cyrie; Chandler, Melissa; Jenkins, Glen; Creel, Donnel; Birch, David; Wang, Yi-Zhong; Rodriguez, Luis; Locke, Kirsten; Klein, Martin; Mejia, Paulina; Jacobson, Samuel G.; Schwartz, Sharon B.; Matsui, Rodrigo; Gruzensky, Michaela; Charng, Jason; Roman, Alejandro J.; Nasser, Fadi; Hahn, Gesa Astrid; Wilhelm, Barbara; Peters, Tobias; Beier, Benjamin; Koenig, Tilman; Kramer, Susanne; Laurent-Coriat, Caroline; Sliesoraityte, Ieva; Zeitz, Christina; Boyard, Fiona; Tran, MinhHa (2019)
  • Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
    Weisschuh, Nicole; Mazzola, Pascale; Zuleger, Theresia; Schaeferhoff, Karin; Kuehlewein, Laura; Kortuem, Friederike; Witt, Dennis; Liebmann, Alexandra; Falb, Ruth; Pohl, Lisa; Reith, Milda; Stuehn, Lara G.; Bertrand, Miriam; Mueller, Amelie; Casadei, Nicolas; Kelemen, Olga; Kelbsch, Carina; Kernstock, Christoph; Richter, Paul; Sadler, Francoise; Demidov, German; Schuetz, Leon; Admard, Jakob; Sturm, Marc; Grasshoff, Ute; Tonagel, Felix; Heinrich, Tilman; Nasser, Fadi; Wissinger, Bernd; Ossowski, Stephan; Kohl, Susanne; Riess, Olaf; Stingl, Katarina; Haack, Tobias B. (2024)
  • Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies
    Nowomiejska, Katarzyna; Nasser, Fadi; Stingl, Katarina; Schimpf-Linzenbold, Simone; Biskup, Saskia; Brzozowska, Agnieszka; Rejdak, Robert; Kohl, Susanne; Zrenner, Eberhart (2022)
  • Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period
    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 (2020)
  • KCNV2-associated retinopathy: genotype-phenotype correlations-KCNV2 study group report 3
    de Guimaraes, Thales A. C.; Georgiou, Michalis; Robson, Anthony G.; Fujinami, Kaoru; Vincent, Ajoy; Nasser, Fadi; Khateb, Samer; Mahroo, Omar A.; Pontikos, Nikolas; Vargas, Mauricio E.; Thiadens, Alberta A. H. J.; de Carvalho, Emanuel R.; Nguyen, Xuan-Than-An; Arno, Gavin; Fujinami-Yokokawa, Yu; Liu, Xiao; Tsunoda, Kazushige; Hayashi, Takaaki; Jimenez-Rolando, Belen; Martin-Merida, Maria Inmaculada; Avila-Fernandez, Almudena; Salas, Ester Carreno; Garcia-Sandoval, Blanca; Ayuso, Carmen; Sharon, Dror; Kohl, Susanne; Huckfeldt, Rachel M.; Banin, Eyal; Pennesi, Mark E.; Khan, Arif O.; Wissinger, Bernd; Webster, Andrew R.; Heon, Elise; Boon, Camiel J. F.; Zrenner, Eberhard; Michaelides, Michel (2024)
  • Longitudinal Changes of Fixation Location and Stability Within 12 Months in Stargardt Disease : ProgStar Report No. 12
    Schonbach, Etienne M.; Strauss, Rupert W.; Kong, Xiangrong; Munoz, Beatriz; Ibrahim, Mohamed A.; Sunness, Janet S.; Birch, David G.; Hahn, Gesa-Astrid; Nasser, Fadi; Zrenner, Eberhart; Sadda, Srinivas R.; West, Sheila K.; Scholl, Hendrik P. N. (2018)
  • Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene
    Nasser, Fadi; Kurtenbach, Anne; Biskup, Saskia; Weidensee, Sabine; Kohl, Susanne; Zrenner, Eberhart (2020)
  • Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec
    Stingl, Krunoslav; Kempf, Melanie; Bartz-Schmidt, Karl U.; Dimopoulos, Spyridon; Reichel, Felix; Jung, Ronja; Kelbsch, Carina; Kohl, Susanne; Kortuem, Friederike Charlotte; Nasser, Fadi; Peters, Tobias; Wilhelm, Barbara; Wissinger, Bernd; Wozar, Fabian; Zrenner, Eberhart; Fischer, M. Dominik; Stingl, Katarina (2022)