학술논문
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'학술논문'
에서 검색결과 277건 | 목록
1~20
Academic Journal
Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D.; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H.; Marshall, Christian R.; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R.; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C.; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J.; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J.; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M.; de Kruiff, Chris C.; Rajabi, Farrah; Rodan, Lance H.; Coury, Stephanie A.; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L.; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P.; Kraemer, Dennis; Prada, Carlos E.; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G. Christoph; Bamshad, Michael J.; Campeau, Philippe M.; Lehman, Anna; Hendon, Laura G.; Wentzensen, Ingrid M.; Monaghan, Kristin G.; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D.; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C.; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K.; Seeley, Andrea H.; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J.; Washington, Camerun; Stevens, Servi J. C.; Heijligers, Malou; Alkuraya, Fowzan S.; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P.; Kühn, Andrea A.; Thoms, Sven; Morrie, Ryan D.; Mekhoubad, Shila; Green, Eric M.; Barmada, Sami J.; Gitler, Aaron D.; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S.; Rauch, Anita; Lipstein, Noa
Nature Genetics. :1-14
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
Preisner, Fabian; Garbade, Sven F.; Grünert, Sarah C.; Schwarz, Daniel; Jende, Johann M. E.; Kurz, Felix T.; Sturm, Volker; Haas, Dorothea; Syrbe, Steffen; Neugebauer, Julia; Beblo, Skadi; Weigel, Corina; Heiland, Sabine; Bendszus, Martin; Kölker, Stefan; Mütze, Ulrike
Investigative Radiology. Feb 02, 2026
Academic Journal
Kinder- und Jugendmedizin. 24:397-404
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
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
Schumann, Anke ; Garbade, Sven F. ; Beblo, Skadi ; Gautschi, Matthias ; Haas, Dorothea ; Hochuli, Michel ; Hoffmann, Georg ; May, Petra ; Merkel, Martin ; Scholl-Bürgi, Sabine ; Thimm, Eva ; Weinhold, Natalie ; Williams, Monika ; Wortmann, Saskia ; Grünert, Sarah C.
In Molecular Genetics and Metabolism March 2025 144(3)
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; 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
Academic Journal
Nikolas Boy; Chris Mühlhausen; Esther M. Maier; Diana Ballhausen; Matthias R. Baumgartner; Skadi Beblo; Peter Burgard; Kimberly A. Chapman; Dries Dobbelaere; Jana Heringer‐Seifert; Sandra Fleissner; Karina Grohmann‐Held; Gabriele Hahn; Inga Harting; Georg F. Hoffmann; Frank Jochum; Daniela Karall; Vassiliki Konstantopoulous; Michael B. Krawinkel; Martin Lindner; E. M. Charlotte Märtner; Jean‐Marc Nuoffer; Jürgen G. Okun; Barbara Plecko; Roland Posset; Katja Sahm; Sabine Scholl‐Bürgi; Eva Thimm; Magdalena Walter; Monique Williams; Stephan vom Dahl; Athanasia Ziagaki; Johannes Zschocke; Stefan Kölker
Journal of inherited metabolic disease, vol. 46, no. 3, pp. 482-519
Academic Journal
In Molecular Genetics and Metabolism September-October 2024 143(1-2)
Academic Journal
Lina Dinkel; Selina Hummel; Valerio Zenatti; Mariagiovanna Malara; Yannik Tillmann; Alessio Colombo; Laura Sebastian Monasor; Jung H. Suh; Todd Logan; Stefan Roth; Lars Paeger; Patricia Hoffelner; Oliver Bludau; Andree Schmidt; Stephan A. Müller; Martina Schifferer; Brigitte Nuscher; Jasenka Rudan Njavro; Matthias Prestel; Laura M. Bartos; Karin Wind-Mark; Luna Slemann; Leonie Hoermann; Sebastian T. Kunte; Johannes Gnörich; Simon Lindner; Mikael Simons; Jochen Herms; Dominik Paquet; Stefan F. Lichtenthaler; Peter Bartenstein; Nicolai Franzmeier; Arthur Liesz; Antje Grosche; Tatiana Bremova-Ertl; Claudia Catarino; Skadi Beblo; Caroline Bergner; Susanne A. Schneider; Michael Strupp; Gilbert Di Paolo; Matthias Brendel; Sabina Tahirovic
Science translational medicine 16(776), eadl4616 (2024). doi:10.1126/scitranslmed.adl4616
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
Karina Grohmann‐Held; Peter Burgard; Christoph G. O. Baerwald; Skadi Beblo; Stephan vom Dahl; Anibh Das; Katharina Dokoupil; Sandra Fleissner; Peter Freisinger; Margret Heddrich‐Ellerbrok; Alexandra Jung; Vanessa Korpel; Johannes Krämer; Dinah Lier; Esther M. Maier; Uta Meyer; Chris Mühlhausen; Martha Newger; Ulrike Och; Ursula Plöckinger; Stefanie Rosenbaum‐Fabian; Frank Rutsch; René Santer; Petra Schick; Martin Schwarz; Ute Spiekerkötter; Ursula Strittmatter; Alena G. Thiele; Athanasia Ziagaki; Ulrike Mütze; Florian Gleich; Sven F. Garbade; Stefan Kölker
Journal of Inherited Metabolic Disease. 45:1070-1081
Academic Journal
Rohde, Carmen; Thiele, Alena Gerlinde; Tomm, Anne; Lier, Dinah; Eschrich, Kathrin; Baerwald, Christoph; Beblo, Skadi
Nutrients. December, 2024, Vol. 16 Issue 23
Academic Journal
Katharina, Mengler; Sven F, Garbade; Florian, Gleich; Eva, Thimm; Petra, May; Martin, Lindner; Natalia, Lüsebrink; Thorsten, Marquardt; Vanessa, Hübner; Johannes, Krämer; Julia, Neugebauer; Skadi, Beblo; Claus, Gillitzer; Sarah C, Grünert; Julia B, Hennermann; Clemens, Kamrath; Iris, Marquardt; Andrea, Näke; Simona, Murko; Sebastian, Schmidt; Elena, Schnabel; Svenja, Lommer-Steinhoff; Georg F, Hoffmann; Jan, Beime; René, Santer; Stefan, Kölker; Ulrike, Mütze
Pediatrics. 154
Academic Journal
Metabolites, Vol 15, Iss 3, p 197 (2025)
Academic Journal
Bingöl, Anne Carolin; Bingöl, Memduh; Pandis, Nikolaos; Stolz, Simone; Beblo, Skadi; Jost-Brinkmann, Paul-Georg; Mönch, Eberhard; Bartzela, Theodosia
Clinical Oral Investigations. 27(5):1981-1991
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