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4 Medizinische Fakultät: Recent submissions

  • A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations
    Bravo, Natalia Borbaran; Deordieva, Ekaterina; Doll, Larissa; ElGamacy, Mohammad; Dannenmann, Benjamin; Azevedo, Joana; Iannuzzo, Alberto; Delafontaine, Selket; Lehners, Moritz; Kolodziej, Marius; Alvarez, Birte Hernandez; Hellmuth, Anna-Sophia; Ritter, Malte; Findik, Betuel; Zakharova, Viktoria; Braeuning, Sandro; Kandabarau, Sergey; Lengerke, Claudia; Feil, Robert; Meyts, Isabelle; Delon, Jerome; Templin, Markus; Sturm, Marc; Riess, Olaf; Zeidler, Cornelia; Welte, Karl; Shcherbina, Anna; Klimiankou, Maksim; Skokowa, Julia (2025)
  • Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
    Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitao, Elsa; Lecoquierre, Francois; Chen, Yuyang; Stenton, Sarah L.; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloe; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stephanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bezieau, Stephane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J.; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kevin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solene; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D'Gama, Alissa M.; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andree; Delanne, Julian; Denomme-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Veronique; Dubourg, Christele; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Melanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M.; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B.; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine (2025)
  • Approaches to Invasive Fungal Diseases in Paediatric Cancer Centres: An Analysis of Current Practices and Challenges in Germany, Austria and Switzerland
    Seidel, Danila; Pana, Zoi Dorothea; Ebrahimi-Fakhari, Daniel; Butzer, Sarina K.; Mehler, Katrin; Reinhold, Ilana; Simon, Arne; Dohna-Schwake, Christian; Mack, Ines; Bodmer, Nicole; Niehues, Tim; Claviez, Alexander; Laengler, Alfred; Leipold, Alfred; Prokop, Aram; Brummel, Bastian; Winkler, Beate; Gruhn, Bernd; Classen, Carl Friedrich; Friedrich, Carsten; Koenig, Christa; Flotho, Christian; Poyer, Fiona; Schilling, Freimut; Calaminus, Gabriele; Sieben, Geeke; Schwabe, Georg C.; Reinhard, Harald; Teltschik, Heiko-Manuel; Hengartner, Heinz; Stursberg, Jana; Greiner, Jeanette; Greil, Johann; Leyh, Joerg; Kuehl, Joern-Sven; Ehlert, Karoline; Bochennek, Konrad; Rohde, Marius; Demmert, Martin; Stiefel, Martina; Eyrich, Matthias; Siepermann, Meinolf; Fruehwald, Michael; Doering, Michaela; Nathrath, Michaela; Minkov, Milen; Streiter, Monika; Jones, Neil; Naumann-Bartsch, Nora; Jorch, Norbert; Beck, Olaf; Beier, Rita; Crazzolara, Roman; Kietz, Silke; Vieth, Simon; Froehling, Stefan; Lobitz, Stephan; Ghosh, Sujal; Vallee, Tanja C.; Mueller, Thilo; Wiesel, Thomas; Daebritz, Tobias; Kontny, Udo; Thiel, Uwe; Strenger, Volker; Eberl, Wolfgang R.; Cornely, Oliver A.; Groll, Andreas H.; Lehrnbecher, Thomas (2025)
  • Immunohistochemical evaluation of a trial of gantenerumab or solanezumab in dominantly inherited Alzheimer disease
    Chen, Charles D.; Franklin, Erin E.; Li, Yan; Joseph-Mathurin, Nelly; Burns, Aime L.; Hobbs, Diana A.; McCullough, Austin A.; Schultz, Stephanie A.; Xiong, Chengjie; Wang, Guoqiao; Masellis, Mario; Hsiung, Ging-Yuek Robin; Gauthier, Serge; Berman, Sarah B.; Roberson, Erik D.; Honig, Lawrence S.; Clarnette, Roger; Ringman, John M.; Galvin, James E.; Brooks, William; Suzuki, Kazushi; Black, Sandra; Levin, Johannes; Aggarwal, Neelum T.; Jucker, Mathias; Frosch, Matthew P.; Kofler, Julia K.; White III, Charles; Keene, C. Dirk; Chen, Jie; Daniels, Alisha; Gordon, Brian A.; Ibanez, Laura; Karch, Celeste M.; Llibre-Guerra, Jorge; McDade, Eric; Morris, John C.; Supnet-Bell, Charlene; Allegri, Ricardo F.; Lee, Jae-Hong; Day, Gregory S.; Lopera, Francisco; Roh, Jee Hoon; Schofield, Peter R.; Mills, Susan; Benzinger, Tammie L. S.; Bateman, Randall J.; Perrin, Richard J. (2025)
  • The Outcome of Cell Therapy Treating Urinary Incontinence Correlates with Precise Cell Localization in the Sphincter Complex
    Harland, Niklas; Johnen, Liv; Avula, Kamal T.; Buzanich-Ladinig, Andrea; Schwarz, Lukas; Knoll, Jasmin; Stenzl, Arnulf; Aicher, Wilhelm K. (2025)