학술논문
'학술논문'
에서 검색결과 71건 | 목록
1~10
Academic Journal
Laugwitz, Lucia; Schoenmakers, Daphne H.; Adang, Laura A.; Beck-Woedl, Stefanie; Bergner, Caroline; Bernard, Geneviève; Bley, Annette; Boyer, Audrey; Calbi, Valeria; Dekker, Hanka; Eichler, Florian; Eklund, Erik; Fumagalli, Francesca; Gavazzi, Francesco; Grønborg, Sabine W.; van Hasselt, Peter; Langeveld, Mirjam; Lindemans, Caroline; Mochel, Fanny; Oberg, Andreas; Ram, Dipak; Saunier-Vivar, Elise; Schöls, Ludger; Scholz, Michael; Sevin, Caroline; Zerem, Ayelet; Wolf, Nicole I.; Groeschel, Samuel
In European Journal of Paediatric Neurology March 2024 49:141-154
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
Periodical
Oppermann, Henry; Marcos-Grañeda, Elia; Weiss, Linnea A.; Gurnett, Christina A.; Jelsig, Anne Marie; Vineke, Susanne H.; Isidor, Bertrand; Mercier, Sandra; Magnussen, Kari; Zacher, Pia; Hashim, Mona; Pagnamenta, Alistair T.; Race, Simone; Srivastava, Siddharth; Frazier, Zoë; Maiwald, Robert; Pergande, Matthias; Milani, Donatella; Rinelli, Martina; Levy, Jonathan; Krey, Ilona; Fontana, Paolo; Lonardo, Fortunato; Riley, Stephanie; Kretzer, Jasmine; Rankin, Julia; Reis, Linda M.; Semina, Elena V.; Reuter, Miriam S.; Scherer, Stephen W.; Iascone, Maria; Weis, Denisa; Fagerberg, Christina R.; Brasch-Andersen, Charlotte; Hansen, Lars Kjaersgaard; Kuechler, Alma; Noble, Nathan; Gardham, Alice; Tenney, Jessica; Rathore, Geetanjali; Beck-Woedl, Stefanie; Haack, Tobias B.; Pavlidou, Despoina C.; Atallah, Isis; Vodopiutz, Julia; Janecke, Andreas R.; Hsieh, Tzung-Chien; Lesmann, Hellen; Klinkhammer, Hannah; Krawitz, Peter M.; Lemke, Johannes R.; Jamra, Rami Abou; Nieto, Marta; Tümer, Zeynep; Platzer, Konrad
European Journal of Human Genetics: EJHG; November 2023, Vol. 31 Issue: 11 p1251-1260, 10p
Academic Journal
Laugwitz, Lucia; Santhanakumaran, Vidiyaah; Spieker, Mareike; Boehringer, Judith; Bender, Benjamin; Gieselmann, Volkmar; Beck‐Woedl, Stefanie; Bruchelt, Gernot; Harzer, Klaus; Kraegeloh‐Mann, Ingeborg; Groeschel, Samuel
JIMD Reports. July 2022, Vol. 63 Issue 4, p292, 11 p.
Academic Journal
Kern, Jan; Boehringer, Judith; Timmann, Dagmar; Trollmann, Regina; Stendel, Claudia; Kamm, Cristoph; Roebl, Markus; Santhanakumaran, Vidiyaah; Groeschel, Samuel; Beck-Woedl, Stefanie; Goericke, Sophia; Kraegeloh-Mann, Ingeborg; Synofzik, Matthis
Academic Journal
Husain, Ralf A.; Jiao, Xinfu; Hennings, J. Christopher; Giesecke, Jan; Palsule, Geeta; Beck-Woedl, Stefanie; Osmanovic, Dina; Bjorgo, Kathrine; Mir, Asif; Ilyas, Muhammad; Abbasi, Saad M.; Efthymiou, Stephanie; Dominik, Natalia; Maroofian, Reza; Houlden, Henry; Rankin, Julia; Pagnamenta, Alistair T.; Nashabat, Marwan; Altwaijri, Waleed; Alfadhel, Majid; Umair, Muhammad; Khouj, Ebtissal; Reardon, William; El-Hattab, Ayman W.; Mekki, Mohammed; Houge, Gunnar; Beetz, Christian; Bauer, Peter; Putoux, Audrey; Lesca, Gaetan; Sanlaville, Damien; Alkuraya, Fowzan S.; Taylor, Robert W.; Mentzel, Hans-Joachim; Huebner, Christian A.; Huppke, Peter; Hart, Ronald P.; Haack, Tobias B.; Kiledjian, Megerditch; Rubio, Ignacio
Academic Journal
Mensch, Alexander; Cordts, Isabell; Scholle, Leila; Joshi, Pushpa Raj; Kleeberg, Kathleen; Emmer, Alexander; Beck-Woedl, Stefanie; Park, Joohyun; Haack, Tobias B.; Stoltenburg-Didinger, Gisela; Zierz, Stephan; Deschauer, Marcus
Journal of Neuromuscular Diseases; 2022, Vol. 9 Issue 4, p533-541, 9p
Academic Journal
Roos, Andreas; van der Ven, Peter F. M.; Alrohaif, Hadil; Koelbel, Heike; Heil, Lorena; Della Marina, Adela; Weis, Joachim; Assent, Marvin; Beck-Woedl, Stefanie; Barresi, Rita; Toepf, Ana; O'Connor, Kaela; Sickmann, Albert; Kohlschmidt, Nicolai; El Gizouli, Magdeldin; Meyer, Nancy; Daya, Nassam; Grande, Valentina; Bois, Karin; Kaiser, Frank J.; Vorgerd, Matthias; Schroeder, Christopher; Schara-Schmidt, Ulrike; Gangfuss, Andrea; Evangelista, Teresinha; Roebisch, Luisa; Hentschel, Andreas; Grueneboom, Anika; Fuerst, Dieter O.; Kuechler, Alma; Tzschach, Andreas; Depienne, Christel; Lochmueller, Hanns
Academic Journal
Tzschach, Andreas; Grasshoff, Ute; Beck-Woedl, Stefanie; Dufke, Claudia; Bauer, Claudia; Kehrer, Martin; Evers, Christina; Moog, Ute; Oehl-Jaschkowitz, Barbara; Di Donato, Nataliya; Maiwald, Robert; Jung, Christine; Kuechler, Alma; Schulz, Solveig; Meinecke, Peter; Spranger, Stephanie; Kohlhase, Jürgen; Seidel, Jörg; Reif, Silke; Rieger, Manuela
Academic Journal
Semino, Francesca; Schröter, Julian; Willemsen, Marjolein H.; Bast, Thomas; Biskup, Saskia; Beck‐Woedl, Stefanie; Brennenstuhl, Heiko; Schaaf, Christian P.; Kölker, Stefan; Hoffmann, Georg F.; Haack, Tobias B.; Syrbe, Steffen
Human Mutation; Sep2021, Vol. 42 Issue 9, p1094-1100, 7p
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[AR] Beck‐Woedl, Stefanie
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