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4 Medizinische Fakultät: Recent submissions

  • 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)
  • Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
    Dohrn, Maike F.; Beijer, Danique; Lone, Museer A.; Bayraktar, Elif; Oflazer, Piraye; Orbach, Rotem; Donkervoort, Sandra; Foley, A. Reghan; Rose, Aubrey; Lyons, Michael; Louie, Raymond J.; Gable, Kenneth; Dunn, Teresa; Chen, Sitong; Danzi, Matt C.; Synofzik, Matthis; Boennemann, Carsten G.; Basak, A. Nazli; Hornemann, Thorsten; Zuchner, Stephan (2024)
  • Impact of the extent of lymph node dissection on survival outcomes in clinically lymph node-positive bladder cancer
    von Deimling, Markus; Furrer, Marc; Mertens, Laura S.; Mari, Andrea; van Ginkel, Noor; Bacchiani, Mara; Maas, Moritz; Pichler, Renate; Li, Roger; Moschini, Marco; Bianchi, Alberto; Vetterlein, Malte W.; Lonati, Chiara; Crocetto, Felice; Taylor, Jacob; Tully, Karl H.; Afferi, Luca; Soria, Francesco; del Giudice, Francesco; Longoni, Mattia; Laukhtina, Ekaterina; Antonelli, Alessandro; Rink, Michael; Fisch, Margit; Lotan, Yair; Spiess, Philippe E.; Black, Peter C.; Kiss, Bernhard; Pradere, Benjamin; Shariat, Shahrokh F. (2024)
  • Endovascular treatment of cerebral sinus thrombosis due to vaccine-induced immune thrombotic thrombocytopenia
    Weller, Johannes; Krzywicka, Katarzyna; van de Munckhof, Anita; Dorn, Franziska; Althaus, Katharina; Bode, Felix J.; di Poggio, Monica Bandettini; Buck, Brian; Kleinig, Timothy; Cordonnier, Charlotte; Dizonno, Vanessa; Duan, Jiangang; Elkady, Ahmed; Chew, Beng Lim Alvin; Garcia-Esperon, Carlos; Field, Thalia S.; Legault, Catherine; Martin, Mar Morin; Michalski, Dominik; Pelz, Johann; Schoenenberger, Silvia; Nagel, Simon; Petruzzellis, Marco; Raposo, Nicolas; Skjelland, Mona; Zimatore, Domenico Sergio; Aaron, Sanjith; van Kammen, Mayte Sanchez; de Sousa, Diana Aguiar; Lindgren, Erik; Jood, Katarina; Scutelnic, Adrian; Heldner, Mirjam R.; Poli, Sven; Arauz, Antonio; Conforto, Adriana B.; Putaala, Jukka; Tatlisumak, Turgut; Arnold, Marcel; Coutinho, Jonathan M.; Guenther, Albrecht; Zimmermann, Julian; Ferro, Jose M. (2024)
  • Diagnostic and prognostic molecular pathology of lymphoid malignancies
    Fend, Falko; van den Brand, Michiel; Groenen, Patricia J. T. A.; Quintanilla-Martinez, Leticia; Bagg, Adam (2024)