학술논문
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'학술논문'
에서 검색결과 250건 | 목록
1~20
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
European Journal of Paediatric Neurology. 49:141-154
Academic Journal
Buchberger, Anne; Riedel, Evamaria; Hackenberg, Marie; Mensch, Alexander; Beck‐Woedl, Stefanie; Park, Joohyun; Haack, Tobias B.; Haslinger, Bernhard; Kirschke, Jan; Prokisch, Holger; Hermann, Andreas; Mawrin, Christian; Danek, Adrian; Schoser, Benedikt; Peikert, Kevin; Deschauer, Marcus; Cordts, Isabell
Annals of Clinical and Translational Neurology. January 10, 2026, Vol. 13 Issue 1, p157, 13 p.
Academic Journal
Axel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa; Luisa Averdunk; Felix Boschann; Henrike Lisa Sczakiel; Sarina Schwartzmann; Martin Atta Mensah; Jean Tori Pantel; Manuel Holtgrewe; Annemarie Bösch; Claudia Weiß; Natalie Weinhold; Aude-Annick Suter; Corinna Stoltenburg; Julia Neugebauer; Tillmann Kallinich; Angela M. Kaindl; Susanne Holzhauer; Christoph Bührer; Philip Bufler; Uwe Kornak; Claus-Eric Ott; Markus Schülke; Hoa Huu Phuc Nguyen; Sabine Hoffjan; Corinna Grasemann; Tobias Rothoeft; Folke Brinkmann; Nora Matar; Sugirthan Sivalingam; Claudia Perne; Elisabeth Mangold; Martina Kreiss; Kirsten Cremer; Regina C. Betz; Martin Mücke; Lorenz Grigull; Thomas Klockgether; Isabel Spier; André Heimbach; Tim Bender; Fabian Brand; Christiane Stieber; Alexandra Marzena Morawiec; Pantelis Karakostas; Valentin S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Meghna Ahuja Bhasin; Pietro Incardona; Min Ae Lee-Kirsch; Reinhard Berner; Catharina Schuetz; Julia Körholz; Tanita Kretschmer; Nataliya Di Donato; Evelin Schröck; André Heinen; Ulrike Reuner; Amalia-Mihaela Hanßke; Frank J. Kaiser; Eva Manka; Martin Munteanu; Alma Kuechler; Kiewert Cordula; Raphael Hirtz; Elena Schlapakow; Christian Schlein; Jasmin Lisfeld; Christian Kubisch; Theresia Herget; Maja Hempel; Christina Weiler-Normann; Kurt Ullrich; Christoph Schramm; Cornelia Rudolph; Franziska Rillig; Maximilian Groffmann; Ania Muntau; Alexandra Tibelius; Eva M. C. Schwaibold; Christian P. Schaaf; Michal Zawada; Lilian Kaufmann; Katrin Hinderhofer; Pamela M. Okun; Urania Kotzaeridou; Georg F. Hoffmann; Daniela Choukair; Markus Bettendorf; Malte Spielmann; Annekatrin Ripke; Martje Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. Riedhammer; Katharina Mayerhanser; Elisabeth Graf; Melanie Brugger; Julia Hoefele; Konrad Oexle; Nazanin Mirza-Schreiber; Riccardo Berutti; Ulrich Schatz; Martin Krenn; Christine Makowski; Heike Weigand; Sebastian Schröder; Meino Rohlfs; Katharina Vill; Fabian Hauck; Ingo Borggraefe; Wolfgang Müller-Felber; Ingo Kurth; Miriam Elbracht; Cordula Knopp; Matthias Begemann; Florian Kraft; Johannes R. Lemke; Julia Hentschel; Konrad Platzer; Vincent Strehlow; Rami Abou Jamra; Martin Kehrer; German Demidov; Stefanie Beck-Wödl; Holm Graessner; Marc Sturm; Lena Zeltner; Ludger J. Schöls; Janine Magg; Andrea Bevot; Christiane Kehrer; Nadja Kaiser; Ernest Turro; Denise Horn; Annette Grüters-Kieslich; Christoph Klein; Stefan Mundlos; Markus Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias Wagner
Nat Genet
Nat. Genet., DOI: 10.1038/s41588-024-01836-1 (2024)
Nat. Genet., DOI: 10.1038/s41588-024-01836-1 (2024)
Academic Journal
Lucia Laugwitz; Thomas P. Mechtler; Nils Janzen; Petra Oliva; Andrea-Romana Kasper; Charlotte E. Teunissen; Friederike Bürger; Joachim Janda; Michaela Döring; Marcus Weitz; Peter Lang; Pascal Martin; Stefanie Beck-Woedl; Charlotte Chanson; Mirko M. Essing; Andrew Shenker; Tobias B. Haack; Johannes H. Schulte; Hendrik Rosewich; Berthold Streubel; David C. Kasper; Samuel Groeschel
New England Journal of Medicine. 391:1256-1258
Academic Journal
Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M.; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C.; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S.; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Bhasin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J.; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M. C.; Schaaf, Christian P.; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M.; Kotzaeridou, Urania; Hoffmann, Georg F.; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S.; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M.; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R.; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J.; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M.; Haack, Tobias; Ehmke, Nadja; Wagner, Matias
Nature Genetics. :1-2
Academic Journal
Tim Burkhardt; Katharine L. Kastor; Stine Christ; Thomas Opladen; Christian Staufner; Stefanie Beck‐Wödl; Tobias Haack; Maja Hempel; Angelika Seitz; Stefan Kölker
JIMD Rep
JIMD Reports, Vol 66, Iss 2, Pp n/a-n/a (2025)
JIMD Reports, Vol 66, Iss 2, Pp n/a-n/a (2025)
Academic Journal
Ralf A Husain; Xinfu Jiao; J Christopher Hennings; Jan Giesecke; Geeta Palsule; Stefanie Beck-Wödl; Dina Osmanović; Kathrine Bjørgo; Asif Mir; Muhammad Ilyas; Saad M Abbasi; Stephanie Efthymiou; Natalia Dominik; Reza Maroofian; Henry Houlden; Julia Rankin; Alistair T Pagnamenta; Marwan Nashabat; Waleed Altwaijri; Majid Alfadhel; Muhammad Umair; Ebtissal Khouj; William Reardon; Ayman W El-Hattab; Mohammed Mekki; Gunnar Houge; Christian Beetz; Peter Bauer; Audrey Putoux; Gaetan Lesca; Damien Sanlaville; Fowzan S Alkuraya; Robert W Taylor; Hans-Joachim Mentzel; Christian A Hübner; Peter Huppke; Ronald P Hart; Tobias B Haack; Megerditch Kiledjian; Ignacio Rubio
Brain. 147:1197-1205
Academic Journal
Henry Oppermann; Elia Marcos-Grañeda; Linnea A. Weiss; Christina A. Gurnett; Anne Marie Jelsig; Susanne H. Vineke; Bertrand Isidor; Sandra Mercier; Kari Magnussen; Pia Zacher; Mona Hashim; Alistair T. Pagnamenta; Simone Race; Siddharth Srivastava; Zoë Frazier; Robert Maiwald; Matthias Pergande; Donatella Milani; Martina Rinelli; Jonathan Levy; Ilona Krey; Paolo Fontana; Fortunato Lonardo; Stephanie Riley; Jasmine Kretzer; Julia Rankin; Linda M. Reis; Elena V. Semina; Miriam S. Reuter; Stephen W. Scherer; Maria Iascone; Denisa Weis; Christina R. Fagerberg; Charlotte Brasch-Andersen; Lars Kjaersgaard Hansen; Alma Kuechler; Nathan Noble; Alice Gardham; Jessica Tenney; Geetanjali Rathore; Stefanie Beck-Woedl; Tobias B. Haack; Despoina C. Pavlidou; Isis Atallah; Julia Vodopiutz; Andreas R. Janecke; Tzung-Chien Hsieh; Hellen Lesmann; Hannah Klinkhammer; Peter M. Krawitz; Johannes R. Lemke; Rami Abou Jamra; Marta Nieto; Zeynep Tümer; Konrad Platzer
Eur J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
European journal of human genetics, vol. 31, no. 11, pp. 1251-1260
Oppermann, H, Marcos-Grañeda, E, Weiss, L A, Gurnett, C A, Jelsig, A M, Vineke, S H, Isidor, B, Mercier, S, Magnussen, K, Zacher, P, Hashim, M, Pagnamenta, A T, Race, S, Srivastava, S, Frazier, Z, Maiwald, R, Pergande, M, Milani, D, Rinelli, M, Levy, J, Krey, I, Fontana, P, Lonardo, F, Riley, S, Kretzer, J, Rankin, J, Reis, L M, Semina, E V, Reuter, M S, Scherer, S W, Iascone, M, Weis, D, Fagerberg, C R, Brasch-Andersen, C, Hansen, L K, Kuechler, A, Noble, N, Gardham, A, Tenney, J, Rathore, G,Beck -Woedl , S, Haack, T B, Pavlidou, D C, Atallah, I, Vodopiutz, J, Janecke, A R, Hsieh, T-C, Lesmann, H, Klinkhammer, H, Krawitz, P M, Lemke, J R, Jamra, R A, Nieto, M, Tümer, Z & Platzer, K 2023, ' CUX1-related neurodevelopmental disorder : deep insights into phenotype-genotype spectrum and underlying pathology ', European journal of human genetics : EJHG, vol. 31, no. 11, pp. 1251-1260 . https://doi.org/10.1038/s41431-023-01445-2
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
European journal of human genetics, vol. 31, no. 11, pp. 1251-1260
Oppermann, H, Marcos-Grañeda, E, Weiss, L A, Gurnett, C A, Jelsig, A M, Vineke, S H, Isidor, B, Mercier, S, Magnussen, K, Zacher, P, Hashim, M, Pagnamenta, A T, Race, S, Srivastava, S, Frazier, Z, Maiwald, R, Pergande, M, Milani, D, Rinelli, M, Levy, J, Krey, I, Fontana, P, Lonardo, F, Riley, S, Kretzer, J, Rankin, J, Reis, L M, Semina, E V, Reuter, M S, Scherer, S W, Iascone, M, Weis, D, Fagerberg, C R, Brasch-Andersen, C, Hansen, L K, Kuechler, A, Noble, N, Gardham, A, Tenney, J, Rathore, G,
Academic Journal
Louiza Toutouna; Stefanie Beck‐Woedl; Ursula Feige; Birgitta Glaeser; Katalin Komlosi; Matthias Eckenweiler; Niklas Luetzen; Tobias B. Haack; Judith Fischer; Ingrid Bader; Andreas Tzschach
American Journal of Medical Genetics Part A. 191:2656-2663
Academic Journal
Roos, Andreas; van der Ven, Peter F M; Alrohaif, Hadil; Kölbel, Heike; Heil, Lorena; Della Marina, Adela; Weis, Joachim; Aßent, Marvin; Beck-Wödl, Stefanie; Barresi, Rita; Töpf, Ana; O'Connor, Kaela; Sickmann, Albert; Kohlschmidt, Nicolai; El Gizouli, Magdeldin; Meyer, Nancy; Daya, Nassam; Grande, Valentina; Bois, Karin; Kaiser, Frank J.; Vorgerd, Matthias; Schröder, Christopher; Schara-Schmidt, Ulrike; Gangfuss, Andrea; Evangelista, Teresinha; Röbisch, Luisa; Hentschel, Andreas; Grüneboom, Anika; Fuerst, Dieter O.; Küchler, Alma; Tzschach, Andreas; Depienne, Christel; Lochmüller, Hanns; O’Connor, Kaela
Brain. 146:4200-4216
Academic Journal
Lucia Laugwitz; Vidiyaah Santhanakumaran; Mareike Spieker; Judith Boehringer; Benjamin Bender; Volkmar Gieselmann; Stefanie Beck‐Woedl; Gernot Bruchelt; Klaus Harzer; Ingeborg Kraegeloh‐Mann; Samuel Groeschel
JIMD Rep
JIMD Reports, Vol 63, Iss 4, Pp 292-302 (2022)
JIMD Reports, Vol 63, Iss 4, Pp 292-302 (2022)
Academic Journal
Vidiyaah, Santhanakumaran; Samuel, Groeschel; Klaus, Harzer; Christiane, Kehrer; Saskia, Elgün; Stefanie, Beck-Wödl; Holger, Hengel; Ludger, Schöls; Tobias B, Haack; Ingeborg, Krägeloh-Mann; Lucia, Laugwitz
Molecular Genetics and Metabolism. 137:273-282
Academic Journal
Alexander, Mensch; Isabell, Cordts; Leila, Scholle; Pushpa Raj, Joshi; Kathleen, Kleeberg; Alexander, Emmer; Stefanie, Beck-Woedl; Joohyun, Park; Tobias B, Haack; Gisela, Stoltenburg-Didinger; Stephan, Zierz; Marcus, Deschauer
Journal of Neuromuscular Diseases. 9:533-541
Academic Journal
Jet van der Spek; Joery den Hoed; Lot Snijders Blok; Alexander J.M. Dingemans; Dick Schijven; Christoffer Nellaker; Hanka Venselaar; Galuh D.N. Astuti; Tahsin Stefan Barakat; E. Martina Bebin; Stefanie Beck-Wödl; Gea Beunders; Natasha J. Brown; Theresa Brunet; Han G. Brunner; Philippe M. Campeau; Goran Čuturilo; Christian Gilissen; Tobias B. Haack; Irina Hüning; Ralf A. Husain; Benjamin Kamien; Sze Chern Lim; Luca Lovrecic; Janine Magg; Ales Maver; Valancy Miranda; Danielle C. Monteil; Charlotte W. Ockeloen; Lynn S. Pais; Vasilica Plaiasu; Laura Raiti; Christopher Richmond; Angelika Rieß; Eva M.C. Schwaibold; Marleen E.H. Simon; Stephanie Spranger; Tiong Yang Tan; Michelle L. Thompson; Bert B.A. de Vries; Ella J. Wilkins; Marjolein H. Willemsen; Clyde Francks; Lisenka E.L.M. Vissers; Simon E. Fisher; Tjitske Kleefstra
Genetics in Medicine, 24, 6, pp. 1283-1296
Genetics in Medicine
Genetics in Medicine
Academic Journal
Andreas Dufke; Markus Hoopmann; Stephan Waldmüller; Natalia Carmen Prodan; Stefanie Beck‐Wödl; Ute Grasshoff; Tilman Heinrich; Angelika Riess; Martin Kehrer; Ruth J. Falb; Alexandra Liebmann; Cristiana Roggia; Miriam Stampfer; Malou Schadeck; Amelie J. Müller; Mona Grimmel; Petra Stöbe; Darja Gauck; Rebecca Buchert‐Lo; Sarah Baumann; Karin Schäferhoff; Miriam Bertrand; Benita Menden; Marc Sturm; Leon Schütz; Olaf Riess; Stephan Ossowski; Tobias B. Haack; Karl Oliver Kagan
Prenatal Diagnosis. 42:901-910
Academic Journal
Katrin Ganser; Franziska Eckert; Andreas Riedel; Nicolai Stransky; Frank Paulsen; Susan Noell; Marcel Krueger; Jens Schittenhelm; Stefanie Beck‐Wödl; Daniel Zips; Peter Ruth; Stephan M. Huber; Lukas Klumpp
International Journal of Cancer. 150:1722-1733
Academic Journal
Journal of Cutaneous Pathology. 49:293-298
Academic Journal
Ruth J Falb; Amelie J Müller; Wolfram Klein; Mona Grimmel; Ute Grasshoff; Stephanie Spranger; Petra Stöbe; Darja Gauck; Alma Kuechler; Nicola Dikow; Eva M C Schwaibold; Christoph Schmidt; Luisa Averdunk; Rebecca Buchert; Tilman Heinrich; Natalia Prodan; Joohyun Park; Martin Kehrer; Marc Sturm; Olga Kelemen; Silke Hartmann; Denise Horn; Dirk Emmerich; Nina Hirt; Armin Neumann; Glen Kristiansen; Ulrich Gembruch; Susanne Haen; Reiner Siebert; Sabine Hentze; Markus Hoopmann; Stephan Ossowski; Stephan Waldmüller; Stefanie Beck-Wödl; Dieter Gläser; Ismail Tekesin; Felix Distelmaier; Olaf Riess; Karl-Oliver Kagan; Andreas Dufke; Tobias B Haack
J Med Genet
Academic Journal
Francesca Semino; Julian Schröter; Marjolein H. Willemsen; Thomas Bast; Saskia Biskup; Stefanie Beck‐Woedl; Heiko Brennenstuhl; Christian P. Schaaf; Stefan Kölker; Georg F. Hoffmann; Tobias B. Haack; Steffen Syrbe
Human Mutation, 42, 9, pp. 1094-1100
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[검색어] Beck-Woedl, Stefanie
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