학술논문
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위반 시 제재
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'학술논문'
에서 검색결과 48건 | 목록
1~20
Academic Journal
Tanjana Harings; Thilo Bertsche; Alena Gerlinde Thiele; Wieland Kiess; Astrid Bertsche; Skadi Beblo; Martina Patrizia Neininger
Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-8 (2025)
Academic Journal
Carmen Rohde; Denise Leonne Hofman; Ira Klawon; Frank Rutsch; Iris Rodenburg; Francjan van Spronsen; Alena Gerlinde Thiele; Willie Woestenenk; Skadi Beblo
Molecular Genetics and Metabolism Reports, Vol 45, Iss , Pp 101264- (2025)
Academic Journal
Tanjana Harings; Martina P. Neininger; Simone Eisenhofer; Alena G. Thiele; Wieland Kiess; Astrid Bertsche; Thilo Bertsche; Skadi Beblo
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Academic Journal
Ulrike Mütze; Alina Ottenberger; Florian Gleich; Esther M. Maier; Martin Lindner; Ralf A. Husain; Katja Palm; Skadi Beblo; Peter Freisinger; René Santer; Eva Thimm; Stephan vom Dahl; Natalie Weinhold; Karina Grohmann‐Held; Claudia Haase; Julia B. Hennermann; Alexandra Hörbe‐Blindt; Clemens Kamrath; Iris Marquardt; Thorsten Marquardt; Robert Behne; Dorothea Haas; Ute Spiekerkoetter; Georg F. Hoffmann; Sven F. Garbade; Sarah C. Grünert; Stefan Kölker
Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 883-898 (2024)
Academic Journal
Metabolites, Vol 15, Iss 3, p 197 (2025)
Academic Journal
Vicente A. Yépez; Mirjana Gusic; Robert Kopajtich; Christian Mertes; Nicholas H. Smith; Charlotte L. Alston; Rui Ban; Skadi Beblo; Riccardo Berutti; Holger Blessing; Elżbieta Ciara; Felix Distelmaier; Peter Freisinger; Johannes Häberle; Susan J. Hayflick; Maja Hempel; Yulia S. Itkis; Yoshihito Kishita; Thomas Klopstock; Tatiana D. Krylova; Costanza Lamperti; Dominic Lenz; Christine Makowski; Signe Mosegaard; Michaela F. Müller; Gerard Muñoz-Pujol; Agnieszka Nadel; Akira Ohtake; Yasushi Okazaki; Elena Procopio; Thomas Schwarzmayr; Joél Smet; Christian Staufner; Sarah L. Stenton; Tim M. Strom; Caterina Terrile; Frederic Tort; Rudy Van Coster; Arnaud Vanlander; Matias Wagner; Manting Xu; Fang Fang; Daniele Ghezzi; Johannes A. Mayr; Dorota Piekutowska-Abramczuk; Antonia Ribes; Agnès Rötig; Robert W. Taylor; Saskia B. Wortmann; Kei Murayama; Thomas Meitinger; Julien Gagneur; Holger Prokisch
Genome Medicine, Vol 14, Iss 1, Pp 1-26 (2022)
Academic Journal
Carmen Rohde; Alena Gerlinde Thiele; Christoph Baerwald; Rudolf Georg Ascherl; Dinah Lier; Ulrike Och; Christina Heller; Alexandra Jung; Kathrin Schönherr; Monika Joerg-Streller; Simone Luttat; Sabine Matzgen; Tina Winkler; Stefanie Rosenbaum-Fabian; Oxana Joos; Skadi Beblo
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Academic Journal
E. M. Charlotte Märtner; Eva Thimm; Philipp Guder; Katharina A. Schiergens; Frank Rutsch; Sylvia Roloff; Iris Marquardt; Anibh M. Das; Peter Freisinger; Sarah C. Grünert; Johannes Krämer; Matthias R. Baumgartner; Skadi Beblo; Claudia Haase; Andrea Dieckmann; Martin Lindner; Andrea Näke; Georg F. Hoffmann; Chris Mühlhausen; Magdalena Walter; Sven F. Garbade; Esther M. Maier; Stefan Kölker; Nikolas Boy
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Academic Journal
Alena Gerlinde Thiele; Nicole Spieß; Rudolf Ascherl; Maria Arelin; Carmen Rohde; Wieland Kiess; Skadi Beblo
JIMD Reports, Vol 59, Iss 1, Pp 69-80 (2021)
Academic Journal
Tanjana Harings; Martina Patrizia Neininger; Simone Eisenhofer; Alena Gerlinde Thiele; Wieland Kiess; Astrid Bertsche; Skadi Beblo; Thilo Bertsche
Children, Vol 10, Iss 12, p 1873 (2023)
Academic Journal
E. M. Charlotte Märtner; Eva Thimm; Philipp Guder; Katharina A. Schiergens; Frank Rutsch; Sylvia Roloff; Iris Marquardt; Anibh M. Das; Peter Freisinger; Sarah C. Grünert; Johannes Krämer; Matthias R. Baumgartner; Skadi Beblo; Claudia Haase; Andrea Dieckmann; Martin Lindner; Andrea Näke; Georg F. Hoffmann; Chris Mühlhausen; Magdalena Walter; Sven F. Garbade; Esther M. Maier; Stefan Kölker; Nikolas Boy
Scientific Reports, Vol 11, Iss 1, Pp 1-1 (2021)
Academic Journal
Ulrike Mütze; Friederike Bürger; Jessica Hoffmann; Helmut Tegetmeyer; Jens Heichel; Petra Nickel; Johannes R Lemke; Steffen Syrbe; Skadi Beblo
Molecular Genetics and Metabolism Reports, Vol 10, Iss C, Pp 1-4 (2017)
Academic Journal
Carmen Rohde; Alena Gerlinde Thiele; Ulrike Och; Katrin Schönherr; Uta Meyer; Stefanie Rosenbaum-Fabian; Cornelia Maddalon; Sabine Matzken; Holger Blessing; Frauke Lang; Monika Jörg-Streller; Skadi Beblo
Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 36-41 (2015)
Academic Journal
Alena G. Thiele; Carmen Rohde; Ulrike Mütze; Maria Arelin; Uta Ceglarek; Joachim Thiery; Christoph Baerwald; Wieland Kiess; Skadi Beblo
Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 62-67 (2015)
Academic Journal
Ken D. Stark; Skadi Beblo; Mahadev Murthy; Michelle Buda-Abela; James Janisse; Helaine Rockett; Janice E. Whitty; Susan S. Martier; Robert J. Sokol; John H. Hannigan; Norman Salem, Jr.
Journal of Lipid Research, Vol 46, Iss 3, Pp 516-525 (2005)
Academic Journal
Ulrike Mütze; Skadi Beblo; Linda Kortz; Claudia Matthies; Berthold Koletzko; Mathias Bruegel; Carmen Rohde; Joachim Thiery; Wieland Kiess; Uta Ceglarek
PLoS ONE, Vol 7, Iss 8, p e43021 (2012)
Academic Journal
Reza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
Nature Genetics.
Academic Journal
Kinder- und Jugendmedizin. 24:397-404
Academic Journal
Memduh Bingöl; Alessio Cardilli; Anne Carolin Bingöl; Ulrike Löber; Corinna Bang; Andre Franke; Theodosia Bartzela; Skadi Beblo; Eberhard Mönch; Simone Stolz; Arne S. Schaefer; Sofia Kirke Forslund; Gesa M. Richter
Journal of Clinical Periodontology. 51:1081-1092
Academic Journal
Ulrike Mütze; Lucy Henze; Julian Schröter; Florian Gleich; Martin Lindner; Sarah C. Grünert; Ute Spiekerkoetter; René Santer; Eva Thimm; Regina Ensenauer; Johannes Weigel; Skadi Beblo; Maria Arélin; Julia B. Hennermann; Iris Marquardt; Peter Freisinger; Johannes Krämer; Andrea Dieckmann; Natalie Weinhold; Katharina A. Schiergens; Esther M. Maier; Georg F. Hoffmann; Sven F. Garbade; Stefan Kölker
Journal of Inherited Metabolic Disease. 46:1063-1077
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