Auflistung 4 Medizinische Fakultät nach Titel

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Auflistung 4 Medizinische Fakultät nach Titel

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  • Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion
    Lekszas, Caroline; Foresti, Ombretta; Raote, Ishier; Lietdke, Daniel; Koenig, Eva-Maria; Nanda, Indrajit; Vona, Barbara; De Coster, Peter; Cauwels, Rita; Malhotra, Vivek; Haaf, Thomas (2020)
  • Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
    Jurkute, Neringa; Cancellieri, Francesca; Pohl, Lisa; Li, Catherina H. Z.; Heaton, Robert A.; Reurink, Janine; Bellingham, James; Quinodoz, Mathieu; Yioti, Georgia; Stefaniotou, Maria; Weener, Marianna; Zuleger, Theresia; Haack, Tobias B.; Stingl, Katarina; Hoyng, Carel B.; Mahroo, Omar A.; Hargreaves, Iain; Raymond, F. Lucy; Michaelides, Michel; Rivolta, Carlo; Kohl, Susanne; Roosing, Susanne; Webster, Andrew R.; Arno, Gavin (2022)
  • Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
    Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Muller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; De Ridder, Willem; De Winter, Jonathan; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; van de Warrenburg, Bart P.; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Kuepper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M., Jr.; Lewis, Richard A.; Millan, Francisca; Duman, Ozgur; Dundar, Nihal; Uyanik, Gokhan; Schols, Ludger; Nuernberg, Peter; Nuernberg, Gudrun; Bordes, Andrea Catala; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Glaeser, Dieter; Huettel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Zuchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schuele, Rebecca; Horvath, Rita; Houlden, Henry (2021)
  • Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
    Lin, Sheng-Jia; Vona, Barbara; Barbalho, Patricia G.; Kaiyrzhanov, Rauan; Maroofian, Reza; Petree, Cassidy; Severino, Mariasavina; Stanley, Valentina; Varshney, Pratishtha; Bahena, Paulina; Alzahrani, Fatema; Alhashem, Amal; Pagnamenta, Alistair T.; Aubertin, Gudrun; Estrada-Veras, Juvianee I.; Hernandez, Hector Adrian Diaz; Mazaheri, Neda; Oza, Andrea; Thies, Jenny; Renaud, Deborah L.; Dugad, Sanmati; McEvoy, Jennifer; Sultan, Tipu; Pais, Lynn S.; Tabarki, Brahim; Villalobos-Ramirez, Daniel; Rad, Aboulfazl; Galehdari, Hamid; Ashrafzadeh, Farah; Sahebzamani, Afsaneh; Saeidi, Kolsoum; Torti, Erin; Elloumi, Houda Z.; Mora, Sara; Palculict, Timothy B.; Yang, Hui; Wren, Jonathan D.; Fowler, Ben; Joshi, Manali; Behra, Martine; Burgess, Shawn M.; Nath, Swapan K.; Hanna, Michael G.; Kenna, Margaret; Merritt, J. Lawrence, II; Houlden, Henry; Karimiani, Ehsan Ghayoor; Zaki, Maha S.; Haaf, Thomas; Alkuraya, Fowzan S.; Gleeson, Joseph G.; Varshney, Gaurav K. (2021)
  • Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
    Feichtinger, Rene G.; Mucha, Bettina E.; Hengel, Holger; Orfi, Zakaria; Makowski, Christine; Dort, Junio; D'Anjou, Guy; Thi Tuyet Mai Nguyen; Buchert, Rebecca; Juenger, Hendrik; Freisinger, Peter; Baumeister, Sarah; Schoser, Benedikt; Ahting, Uwe; Keimer, Reinhard; Nguyen, Cam-Tu Emilie; Fabre, Paul; Gauthier, Julie; Miguet, Marguerite; Lopes, Fatima; AlHakeem, Afnan; AlHashem, Amal; Tabarki, Brahim; Kandaswamy, Krishna Kumar; Bauer, Peter; Steinbacher, Peter; Prokisch, Holger; Sturm, Marc; Strom, Tim M.; Ellezam, Benjamin; Mayr, Johannes A.; Schoels, Ludger; Michaud, Jacques L.; Campeau, Philippe M.; Haack, Tobias B.; Dumont, Nicolas A. (2019)
  • Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia
    Mencacci, Niccolo E.; Brockmann, Marisa M.; Dai, Jinye; Pajusalu, Sander; Atasu, Burcu; Campos, Joaquin; Pino, Gabriela; Gonzalez-Latapi, Paulina; Patzke, Christopher; Schwake, Michael; Tucci, Arianna; Pittman, Alan; Simon-Sanchez, Javier; Carvill, Gemma L.; Balint, Bettina; Wiethoff, Sarah; Warner, Thomas T.; Papandreou, Apostolos; Soo, Audrey; Rein, Reet; Kadastik-Eerme, Liis; Puusepp, Sanna; Reinson, Karit; Tomberg, Tiiu; Hanagasi, Hasmet; Gasser, Thomas; Bhatia, Kailash P.; Kurian, Manju A.; Lohmann, Ebba; Ounap, Katrin; Rosenmund, Christian; Sudhof, Thomas C.; Wood, Nicholas W.; Krainc, Dimitri; Acuna, Claudio (2021)
  • Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy
    Bodenbender, Jan-Philipp; Marino, Valerio; Bethge, Leon; Stingl, Katarina; Haack, Tobias B. B.; Biskup, Saskia; Kohl, Susanne; Kuehlewein, Laura; Dell'Orco, Daniele; Weisschuh, Nicole (2023)
  • Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
    Christensen, Maria B.; Levy, Amanda M.; Mohammadi, Nazanin A.; Niceta, Marcello; Kaiyrzhanov, Rauan; Dentici, Maria Lisa; Al Alam, Chadi; Alesi, Viola; Benoit, Valerie; Bhatia, Kailash P.; Bierhals, Tatjana; Bosselmann, Christian M.; Buratti, Julien; Callewaert, Bert; Ceulemans, Berten; Charles, Perrine; De Wachter, Matthias; Dehghani, Mohammadreza; D'haenens, Erika; Doco-Fenzy, Martine; Gessner, Michaela; Gobert, Cyrielle; Guliyeva, Ulviyya; Haack, Tobias B.; Hammer, Trine B.; Heinrich, Tilman; Hempel, Maja; Herget, Theresia; Hoffmann, Ute; Horvath, Judit; Houlden, Henry; Keren, Boris; Kresge, Christina; Kumps, Candy; Lederer, Damien; Lermine, Alban; Magrinelli, Francesca; Maroofian, Reza; Mehrjardi, Mohammad Yahya Vahidi; Moudi, Mahdiyeh; Mueller, Amelie J.; Oostra, Anna J.; Pletcher, Beth A.; Ros-Pardo, David; Samarasekera, Shanika; Tartaglia, Marco; Van Schil, Kristof; Vogt, Julie; Wassmer, Evangeline; Winkelmann, Juliane; Zaki, Maha S.; Zech, Michael; Lerche, Holger; Radio, Francesca Clementina; Gomez-Puertas, Paulino; Moller, Rikke S.; Tuemer, Zeynep (2022)
  • Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
    Siekierska, Aleksandra; Stamberger, Hannah; Deconinck, Tine; Oprescu, Stephanie N.; Partoens, Michele; Zhang, Yifan; Sourbron, Jo; Adriaenssens, Elias; Mullen, Patrick; Wiencek, Patrick; Hardies, Katia; Lee, Jeong-Soo; Giong, Hoi-Khoanh; Distelmaier, Felix; Elpeleg, Orly; Helbig, Katherine L.; Hersh, Joseph; Isikay, Sedat; Jordan, Elizabeth; Karaca, Ender; Kecskes, Angela; Lupski, James R.; Kovacs-Nagy, Reka; May, Patrick; Narayanan, Vinodh; Pendziwiat, Manuela; Ramsey, Keri; Rangasamy, Sampathkumar; Shinde, Deepali N.; Spiegel, Ronen; Timmerman, Vincent; von Spiczak, Sarah; Helbig, Ingo; Balak, Chris; Belnap, Newell; Claasen, Ana; Courtright, Amanda; de Both, Matt; Huentelman, Matthew J.; Naymik, Marcus; Richholt, Ryan; Siniard, Ashley L.; Szelinger, Szabolcs; Craig, David W.; Schrauwen, Isabelle; Afawi, Zaid; Balling, Rudi; Baulac, Stephanie; Barisic, Nina; Caglayan, Hande S.; Craiu, Dana; Guerrero-Lopez, Rosa; Guerrini, Renzo; Hjalgrim, Helle; Jahn, Johanna; Klein, Karl Martin; Leguern, Eric; Lemke, Johannes R.; Lerche, Holger; Marini, Carla; Moller, Rikke S.; Muhle, Hiltrud; Rosenow, Felix; Serratosa, Jose; Suls, Arvid; Stephani, Ulrich; Sterbova, Katalin; Striano, Pasquale; Zara, Federico; Weckhuysen, Sarah; Francklyn, Christopher; Antonellis, Anthony; de Witte, Peter; De Jonghe, Peter (2019)
  • Bias in dissemination of clinical research findings: structured OPEN framework of what, who and why, based on literature review and expert consensus
    Bassler, Dirk; Mueller, Katharina F.; Briel, Matthias; Kleijnen, Jos; Marusic, Ana; Wager, Elizabeth; Antes, Gerd; von Elm, Erik; Altman, Douglas G.; Meerpohl, Joerg J. (2016)
  • Biased temporal order judgments in chronic neglect influenced by trunk position
    Rorden, Christopher; Li, Dongyun; Karnath, Hans-Otto (2018)
  • Biases in study design, implementation, and data analysis that distort the appraisal of clinical benefit and ESMO-Magnitude of Clinical Benefit Scale (ESMO-MCBS) scoring
    Gyawali, B.; de Vries, E. G. E.; Dafni, U.; Amaral, T.; Barriuso, J.; Bogaerts, J.; Calles, A.; Curigliano, G.; Gomez-Roca, C.; Kiesewetter, B.; Oosting, S.; Passaro, A.; Pentheroudakis, G.; Piccart, M.; Roitberg, F.; Tabernero, J.; Tarazona, N.; Trapani, D.; Wester, R.; Zarkavelis, G.; Zielinski, C.; Zygoura, P.; Cherny, N., I (2021)
  • Biases in the spectral amplitude distribution of a natural scene modulate horizontal size perception
    Sanz Diez, Pablo; Gisbert, Sandra; Bosco, Annalisa; Fattori, Patrizia; Wahl, Siegfried (2023)
  • Biaxial flexural strength of the bilayered disk composed of ceria-stabilized zirconia/alumina nanocomposite (Ce-TZP/A) and veneering porcelain
    Sawada, Tomofumi; Schille, Christine; Wagner, Verena; Spintzyk, Sebastian; Schweizer, Ernst; Geis-Gerstorfer, Juergen (2018)
  • Biaxial flexural strength of zirconia: a round robin test with 12 laboratories
    Spintzyk, Sebastian; Geis-Gerstorfer, Juergen; Bourauel, Christoph; Keilig, Ludger; Lohbauer, Ulrich; Brune, Annike; Greuling, Andreas; Arnold, Christin; Rues, Stefan; Adjiski, Ranko; Sawada, Tomofumi; Luemkemann, Nina; Stawarczyk, Bogna; Ilie, Nicoleta; Frankenberger, Roland; Dudek, Marie-Christine; Strickstrock, Monika; Begand, Sabine (2021)
  • Bibliometric Properties of Placebo Literature From the JIPS Database: A Descriptive Study
    Weimer, Katja; Buschhart, Cliff; Broelz, Ellen K.; Enck, Paul; Horing, Bjoern (2022)
  • Bibliotherapie und expressives Schreiben in der Kinder- und Jugendpsychiatrie
    Blechinger, Tobias (2011)
  • Bicarbonate-sensitive calcification and lifespan of klotho-deficient mice
    Leibrock, Christina B.; Voelkl, Jakob; Kohlhofer, Ursula; Quintanilla-Martinez, Leticia; Kuro-o, Makoto; Lang, Florian (2016)
  • Bifidobacterium longum 1714 (TM) Strain Modulates Brain Activity of Healthy Volunteers During Social Stress
    Wang, Huiying; Braun, Christoph; Murphy, Eileen F.; Enck, Paul (2019)
  • Big data in der Diagnostik genetischer Schwerhörigkeit
    Vona, Barbara; Mueller, Marcus; Dofek, Saskia; Holderried, Martin; Loewenheim, Hubert; Tropitzsch, Anke (2019)