Browsing Universitätsbibliographie by Author "Riess, Olaf"

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Browsing Universitätsbibliographie by Author "Riess, Olaf"

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  • A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy
    Figueroa, Karla P.; Gross, Caspar; Buena-Atienza, Elena; Paul, Sharan; Gandelman, Mandi; Kakar, Naseebullah; Sturm, Marc; Casadei, Nicolas; Admard, Jakob; Park, Joohyun; Zuehlke, Christine; Hellenbroich, Yorck; Pozojevic, Jelena; Balachandran, Saranya; Haendler, Kristian; Zittel, Simone; Timmann, Dagmar; Erdlenbruch, Friedrich; Herrmann, Laura; Feindt, Thomas; Zenker, Martin; Klopstock, Thomas; Dufke, Claudia; Scoles, Daniel R.; Koeppen, Arnulf; Spielmann, Malte; Riess, Olaf; Ossowski, Stephan; Haack, Tobias B.; Pulst, Stefan M. (2024)
  • 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)
  • Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)
    Ellwanger, Kornelia; Brill, Julie A.; de Boer, Elke; Efthymiou, Stephanie; Elgersma, Ype; Icmat, Marynelle; Lecoquierre, Francois; Lobato, Amanda G.; Morleo, Manuela; Ori, Michela; Schaffer, Ashleigh E.; Vitobello, Antonio; Wells, Sara; Yalcin, Binnaz; Zhai, R. Grace; Sturm, Marc; Zurek, Birte; Graessner, Holm; Bermejo-Sanchez, Eva; Evangelista, Teresinha; Hoogerbrugge, Nicoline; Nigro, Vincenzo; Schuele, Rebecca; Verloes, Alain; Brunner, Han; Campeau, Philippe M.; Lasko, Paul; Riess, Olaf (2024)
  • UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescents
    Liebmann, Alexandra; Admard, Jakob; Armeanu-Ebinger, Sorin; Wild, Hannah; Abele, Michael; Gschwind, Axel; Seibel-Kelemen, Olga; Seitz, Christian; Bonzheim, Irina; Riess, Olaf; Demidov, German; Sturm, Marc; Schadeck, Malou; Pogoda, Michaela; Bien, Ewa; Krawczyk, Malgorzata; Juettner, Eva; Mentzel, Thomas; Cesen, Maja; Pfaff, Elke; Kunc, Michal; Forchhammer, Stephan; Forschner, Andrea; Leiter-Stoeppke, Ulrike; Eigentler, Thomas K.; Schneider, Dominik T.; Eigentler, Thomas K.; Schneider, Dominik T.; Schroeder, Christopher; Ossowski, Stephan; Breht, Ines B. (2023)