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DSpace Repositorium (Manakin basiert)

4 Medizinische Fakultät: Recent submissions

  • Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments
    Cheerie, David; Meserve, Margaret M.; Beijer, Danique; Kaiwar, Charu; Newton, Logan; Tavares, Ana Lisa Taylor; Verran, Aubrie Soucy; Sherrill, Emma; Leonard, Stefanie; Sanders, Stephan J.; Blake, Emily; Elkhateeb, Nour; Gandhi, Aastha; Liang, Nicole S. Y.; Morgan, Jack T.; Verwillow, Anna; Verheijen, Jan; Giles, Andrew; Williams, Sean; Chopra, Maya; Croft, Laura; Dafsari, Hormos Salimi; Davidson, Alice E.; Friedman, Jennifer; Gregor, Anne; Haque, Bushra; Lechner, Rosan; Montgomery, Kylie-Ann; Ryten, Mina; Schober, Emil; Siegel, Gabriele; Sullivan, Patricia J.; Whittle, Ella F.; Zardetto, Bianca; Yu, Timothy W.; Synofzik, Matthis; Aartsma-Rus, Annemieke; Costain, Gregory; Lauffer, Marlen C. (2025)
  • Fever management with or without a temperature control device after out-of-hospital cardiac arrest and resuscitation (TEMP-CARE): A study protocol for a randomized clinical trial
    Holgersson, Johan; Niemela, V.; Skrifvars, M. B.; Kamp-Jorgensen, C.; Saxena, M.; Young, P.; Bass, F.; Dankiewicz, J.; Hammond, N.; Hastbacka, J.; Levin, H.; Lilja, G.; Moseby-Knappe, M.; Tiainen, M.; Reinikainen, M.; Ceric, A.; During, J.; Lybeck, A.; Rodriguez-Santos, D.; Johnsson, J.; Unden, J.; Lundin, A.; Kahlin, J.; Grip, J.; Rosell, J.; Lotman, E. M.; Navarra, L.; Crichton, B.; Knight, D.; Williams, A.; Romundstad, L.; Seidel, P.; Stammet, P.; Graf, T.; Mengel, A.; Leithner, C.; Nee, J.; Druwe, P.; Ameloot, K.; Wise, M.; Riddel, J.; Ahmed, M.; Buckel, M.; Mc Guigan, P.; Maharaj, R.; Wyncoll, D.; Thomas, M.; White, J.; Keeble, T. R.; Pogson, D.; Nichol, A.; Haenggi, M.; Hilty, M. P.; Iten, M.; Schrag, C.; Nafi, M.; Joannidis, M.; Robba, C.; Pellis, T.; Belohlavek, J.; Smid, O.; Rob, D.; Arabi, Y.; Buabbas, S.; Woon, C. Yew; Aneman, A.; Stewart, A.; Bernard, S.; Palmer-Simpson, C.; Simpson, N.; Ramanan, M.; Reade, M.; Delaney, A.; Venkatesh, B.; Tirkkonen, J.; Oksanen, T.; Kaakinen, T.; Bendel, S.; Friberg, H.; Cronberg, T.; Jakobsen, J.; Nielsen, N. (2025)
  • Bonding behavior of graphene-based enhanced restorative materials: a systematic review and meta-analysis
    de Toledo, Priscila Toninatto Alves; Nunes, Gabriel Pereira; Ferreira, Mayra Fernanda; Martins, Tamires Passadori; Peres, Georgia Rondo; Soares, Diana Gabriela; Esteves-Oliveira, Marcella (2025)
  • 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)