Auflistung 4 Medizinische Fakultät nach Autor "Kohl, Susanne"

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Auflistung 4 Medizinische Fakultät nach Autor "Kohl, Susanne"

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  • The Usher syndrome 1C protein harmonin regulates canonical Wnt signaling
    Schaefer, Jessica; Wenck, Nicole; Janik, Katharina; Linnert, Joshua; Stingl, Katarina; Kohl, Susanne; Nagel-Wolfrum, Kerstin; Wolfrum, Uwe (2023)
  • Therapy with voretigene neparvovec. How to measure success?
    Stingl, Krunoslav; Kempf, Melanie; Jung, Ronja; Kortuem, Friederike; Righetti, Giulia; Reith, Milda; Dimopoulos, Spyridon; Ott, Saskia; Kohl, Susanne; Stingl, Katarina (2023)
  • Three-year results of phase I retinal gene therapy trial for CNGA3-mutated achromatopsia: results of a non randomised controlled trial
    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, Mathias; Bartz-Schmidt, Karl Ulrich; Ueffing, Marius; Zrenner, Eberhard; Biel, Martin; Wissinger, Bernd; Fischer, Dominik (2022)
  • Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype
    Perrault, Isabelle; Estrada-Cuzcano, Alejandro; Lopez, Irma; Kohl, Susanne; Li, Shiqiang; Testa, Francesco; Zekveld-Vroon, Renate; Wang, Xia; Pomares, Esther; Andorf, Jean; Aboussair, Nisrine; Banfi, Sandro; Delphin, Nathalie; den Hollander, Anneke I.; Edelson, Catherine; Florijn, Ralph; Jean-Pierre, Marc; Leowski, Corinne; Megarbane, Andre; Villanueva, Cristina; Flores, Blanca; Munnich, Arnold; Ren, Huanan; Zobor, Ditta; Bergen, Arthur; Chen, Rui; Cremers, Frans P. M.; Gonzalez-Duarte, Roser; Koenekoop, Robert K.; Simonelli, Francesca; Stone, Edwin; Wissinger, Bernd; Zhang, Qingjiong; Kaplan, Josseline; Rozet, Jean-Michel (2013)
  • Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
    Bahena, Paulina; Daftarian, Narsis; Maroofian, Reza; Linares, Paola; Villalobos, Daniel; Mirrahimi, Mehraban; Rad, Aboulfazl; Doll, Julia; Hofrichter, Michaela A. H.; Koparir, Asuman; Roeder, Tabea; Han, Seungbin; Sabbaghi, Hamideh; Ahmadieh, Hamid; Behboudi, Hassan; Villanueva-Mendoza, Cristina; Cortes-Gonzalez, Vianney; Zamora-Ortiz, Rocio; Kohl, Susanne; Kuehlewein, Laura; Darvish, Hossein; Alehabib, Elham; De la Luz Arenas-Sordo, Maria; Suri, Fatemeh; Vona, Barbara; Haaf, Thomas (2022)
  • Usher Syndrome and Color Vision
    Kurtenbach, Anne; Hahn, Gesa; Kernstock, Christoph; Hipp, Stephanie; Zobor, Ditta; Stingl, Katarina; Kohl, Susanne; Bonnet, Crystel; Mohand-Said, Saddek; Sliesoraityte, Ieva; Sahel, Jose-Alain; Audo, Isabelle; Fakin, Ana; Hawlina, Marko; Testa, Francesco; Simonelli, Francesca; Petit, Christine; Zrenner, Eberhart (2018)
  • Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders
    Zeitz, Christina; Michiels, Christelle; Neuille, Marion; Friedburg, Christoph; Condroyer, Christel; Boyard, Fiona; Antonio, Aline; Bouzidi, Nassima; Milicevic, Diana; Veaux, Robin; Tourville, Aurore; Zoumba, Axelle; Seneina, Imene; Foussard, Marine; Andrieu, Camille; Preising, Markus N.; Blanchard, Steven; Saraiva, Jean-Paul; Mesrob, Lilia; Le Floch, Edith; Jubin, Claire; Meyer, Vincent; Blanche, Helene; Boland, Anne; Deleuze, Jean-Francois; Sharon, Dror; Drumare, Isabelle; Defoort-Dhellemmes, Sabine; De Baere, Elfride; Leroy, Bart P.; Zanlonghi, Xavier; Casteels, Ingele; de Ravel, Thorny J.; Balikova, Irina; Koenekoop, Rob K.; Laffargue, Fanny; McLean, Rebecca; Gottlob, Irene; Bonneau, Dominique; Schorderet, Daniel F.; Munier, Francis L.; McKibbin, Martin; Prescott, Katrina; Pelletier, Valerie; Dollfus, Helene; Perdomo-Trujillo, Yaumara; Faure, Celine; Reiff, Charlotte; Wissinger, Bernd; Meunier, Isabelle; Kohl, Susanne; Banin, Eyal; Zrenner, Eberhart; Jurklies, Bernhard; Lorenz, Birgit; Sahel, Jose-Alain; Audo, Isabelle (2019)
  • Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness
    Zeitz, Christina; Jacobson, Samuel G.; Hamel, Christian P.; Bujakowska, Kinga; Neuille, Marion; Orhan, Elise; Zanlonghi, Xavier; Lancelot, Marie-Elise; Michiels, Christelle; Schwartz, Sharon B.; Bocquet, Beatrice; Antonio, Aline; Audier, Claire; Letexier, Melanie; Saraiva, Jean-Paul; Luu, Tien D.; Sennlaub, Florian; Nguyen, Hoan; Poch, Olivier; Dollfus, Helene; Lecompte, Odile; Kohl, Susanne; Sahel, Jose-Alain; Bhattacharya, Shomi S.; Audo, Isabelle (2013)
  • Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
    Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M.; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D.; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Melanie; Saraiva, Jean-Paul; Leroy, Bart P.; Munier, Francis L.; Mohand-Said, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B.; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian R.; Schorderet, Daniel F.; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G.; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W.; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Helene; Poch, Olivier; Leveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, Jose-Alain; Bhattacharya, Shomi S.; Zeitz, Christina (2012)
  • X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR
    Kortum, Friederike; Kieninger, Sinja; Mazzola, Pascale; Kohl, Susanne; Wissinger, Bernd; Prokisch, Holger; Stingl, Katarina; Weisschuh, Nicole (2021)