학술논문
'학술논문'
에서 검색결과 644건 | 목록
30~40
Periodical
Bertrand, Miriam; Shah, Gulalai; Pedersen, Brent S.; Schulz, Alexander; Weise, Anja; Liehr, Thomas; Huppke, Peter; DiTroia, Stephanie; Quinlan, Aaron R.; Haack, Tobias B.; Husain, Ralf A.
Molecular Syndromology; 20240101, Issue: Preprints p1-9, 9p
Academic Journal
Tropitzsch, Anke; Schade-Mann, Thore; Gamerdinger, Philipp; Dofek, Saskia; Schulte, Björn; Schulze, Martin; Fehr, Sarah; Biskup, Saskia; Haack, Tobias B.; Stöbe, Petra; Heyd, Andreas; Harre, Jennifer; Lesinski-Schiedat, Anke; Büchner, Andreas; Lenarz, Thomas; Warnecke, Athanasia; Müller, Marcus; Vona, Barbara; Dahlhoff, Ernst; Löwenheim, Hubert
Ear & Hearing (01960202); Nov/Dec2023, Vol. 44 Issue 6, p1464-1484, 21p
Academic Journal
Bilal, Muhammad; Haack, Tobias B.; Buchert, Rebecca; Peralta, Susana; Ahmad, Imtiaz; Faisal; Abbasi, Sanaullah; Ahmad, Wasim
Molecular Syndromology; 2023, Vol. 14 Issue 6, p469-476, 8p
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene.
Academic Journal
Neurogenetics; Oct2023, Vol. 24 Issue 4, p273-278, 6p
Academic Journal
Toutouna, Louiza; Beck‐Woedl, Stefanie; Feige, Ursula; Glaeser, Birgitta; Komlosi, Katalin; Eckenweiler, Matthias; Luetzen, Niklas; Haack, Tobias B.; Fischer, Judith; Bader, Ingrid; Tzschach, Andreas
American Journal of Medical Genetics. Part A; Oct2023, Vol. 191 Issue 10, p2656-2663, 8p
Academic Journal
Herrmann, Laura; Gelderblom, Mathias; Bester, Maxim; Deininger, Natalie; Schütze, Thorsten; Hidding, Ute; Gross, Caspar; Buena-Atienza, Elena; Dufke, Claudia; Gerloff, Christian; Haack, Tobias B.; Zittel, Simone
In Parkinsonism and Related Disorders February 2022 95:54-56
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations
Academic Journal
Laugwitz, Lucia; Cheng, Fubo; Collins, Stephan C.; Hustinx, Alexander; Navarro, Nicolas; Welsch, Simon; Cox, Helen; Hsieh, Tzung-Chien; Vijayananth, Aswinkumar; Buchert, Rebecca; Bender, Benjamin; Efthymiou, Stephanie; Murphy, David; Zafar, Faisal; Rana, Nuzhat; Grasshoff, Ute; Falb, Ruth J.; Grimmel, Mona; Seibt, Annette; Zheng, Wenxu; Ghaedi, Hamid; Thirion, Marie; Couette, Sebastien; Azizimalamiri, Reza; Sadeghian, Saeid; Galehdari, Hamid; Zamani, Mina; Zeighami, Jawaher; Sedaghat, Alireza; Ramshe, Samira Molaei; Zare, Ali; Alipoor, Behnam; Klee, Dirk; Sturm, Marc; Ossowski, Stephan; Houlden, Henry; Riess, Olaf; Wieczorek, Dagmar; Gavin, Ryan; Maroofian, Reza; Krawitz, Peter; Yalcin, Binnaz; Distelmaier, Felix; Haack, Tobias B.; Genomics England Res Consortium
Academic Journal
Gomes, Lucas Caldi; Haenzelmann, Sonja; Hausmann, Fabian; Khatri, Robin; Oller, Sergio; Parvaz, Mojan; Tzeplaeff, Laura; Pasetto, Laura; Gebelin, Marie; Ebbing, Melanie; Holzapfel, Constantin; Columbro, Stefano Fabrizio; Scozzari, Serena; Knoeferle, Johanna; Cordts, Isabell; Demleitner, Antonia F.; Deschauer, Marcus; Dufke, Claudia; Sturm, Marc; Zhou, Qihui; Zelina, Pavol; Sudria-Lopez, Emma; Haack, Tobias B.; Streb, Sebastian; Kuzma-Kozakiewicz, Magdalena; Edbauer, Dieter; Pasterkamp, R. Jeroen; Laczko, Endre; Rehrauer, Hubert; Schlapbach, Ralph; Carapito, Christine; Bonetto, Valentina; Bonn, Stefan; Lingor, Paul
Academic Journal
Gustavsson, Emil K.; Follett, Jordan; Trinh, Joanne; Barodia, Sandeep K.; Real, Raquel; Liu, Zhiyong; Grant-Peters, Melissa; Fox, Jesse D.; Appel-Cresswell, Silke; Stoessl, A. Jon; Rajput, Alex; Rajput, Ali H.; Auer, Roland; Tilney, Russel; Sturm, Marc; Haack, Tobias B.; Lesage, Suzanne; Tesson, Christelle; Brice, Alexis; Vilarino-Gueell, Carles; Ryten, Mina; Goldberg, Matthew S.; West, Andrew B.; Hu, Michele T.; Morris, Huw R.; Sharma, Manu; Gan-Or, Ziv; Samanci, Bedia; Lis, Pawel; Perinan, Maria Teresa; Ben Sassi, Samia; Hentati, Faycel; Tonelli, Francesca; Alessi, Dario R.; Farrer, Matthew j; Global Parkinsons Genetics Program GP2
Academic Journal
Distelmaier, Felix; Sezer, Abdullah; Helm, Christina; Waldmueller, Stephan; Seibt, Annette; Gangfuss, Andrea; Koelbel, Heike; Schara-Schmidt, Ulrike; Yuksel, Deniz; Talim, Beril; Mayatepek, Ertan; Nikolin, Stefan; Weis, Joachim; Roos, Andreas; Haack, Tobias B.
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[AR] Haack, Tobias B.
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