المؤلفون: Funke, Viktoria L. E., Sandmann, Sarah, Melcher, Viktoria, Seggewiss, Jochen, Horvath, Judit, Jäger, Natalie^{Aff4, Aff5}, Kool, Marcel^{Aff4, Aff5, Aff6}, Jones, David T. W.^{Aff4, Aff7}, Pfister, Stefan M.^{Aff4, Aff5, Aff8, Aff9}, Milde, Till^{Aff4, Aff8, Aff9, Aff10}, Rutkowski, Stefan, Mynarek, Martin^{Aff11, Aff12}, Varghese, Julian, Sträter, Ronald, Rust, Stephan, Seelhöfer, Anja, Reunert, Janine, Fiedler, Barbara, Schüller, Ulrich^{Aff11, Aff15, Aff16}, Marquardt, Thorsten, Kerl, Kornelius^{Aff1, IDs40478023016020_cor21}

المصدر: Acta Neuropathologica Communications. 11(1)

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Kemme, Lisa, Grüneberg, Marianne, Reunert, Janine, Rust, Stephan, Park, Julien H., Westermann, Cordula, Wada, Yoshinao, Schwartz, Oliver, Marquardt, Thorsten

المصدر: JIMD Reports. 60(1):42-55

مصطلحات موضوعية: MAN1B1-CDG, disulfiram

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-202956
https://doi.org/10.1002/jmd2.12213
https://umu.diva-portal.org/smash/get/diva2:1727029/FULLTEXT01.pdf

المؤلفون: Park, Julien H., Mealer, Robert G., Elias, Abdallah F., Hoffmann, Susanne, Grueneberg, Marianne, Biskup, Saskia, Fobker, Manfred, Haven, Jaclyn, Mangels, Ute, Reunert, Janine, Rust, Stephan, Schoof, Jonathan, Schwanke, Corbin, Smoller, Jordan W., Cummings, Richard D., Marquardt, Thorsten

المصدر: Journal of Inherited Metabolic Disease. 43(6):1370-1381

مصطلحات موضوعية: congenital disorders of glycosylation, glycosylation, MALDI-TOF MS, manganese

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-175818
https://doi.org/10.1002/jimd.12306
https://umu.diva-portal.org/smash/get/diva2:1475562/FULLTEXT02.pdf

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Schrapers, Esther^Aff13, Tegtmeyer, Laura C.^Aff13, Simic-Schleicher, Gunter^Aff14, Debus, Volker^Aff15, Reunert, Janine^Aff13, Balbach, Sebastian^Aff16, Klingel, Karin^Aff17, Du Chesne, Ingrid^Aff13, Seelhöfer, Anja^Aff13, Fobker, Manfred^Aff18, Marquardt, Thorsten^Aff13, Rust, Stephan^Aff13

المساهمون: Baumgartner, Matthias, Series editor^{Aff1, Aff8}, Patterson, Marc, Series editor^{Aff2, Aff9}, Rahman, Shamima, Series editor^{Aff3, Aff10}, Peters, Verena, Series editor^{Aff4, Aff12}, Morava, Eva, Editor-in-chief^{Aff5, Aff7}, Zschocke, Johannes, Series editor^{Aff6, Aff11}

المصدر: JIMD Reports, Volume 26. 26:77-84

المؤلفون: Remaley, Alan T., Rust, Stephan, Rosier, Marie, Knapper, Cathy, Naudin, Laurent, Broccardo, Cyril, Peterson, Katherine M., Koch, Christine, Arnould, Isabelle, Prades, Catherine, Duverger, Nicholas, Funke, Harald, Assman, Gerd, Dinger, Maria, Dean, Michael, Chimini, Giovanna, Santamarina-Fojo, Silvia, Fredrickson, Donald S., Denefle, Patrice, Brewer,, H. Bryan

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1999 Oct . 96(22), 12685-12690.

URL الوصول: https://www.jstor.org/stable/49408

المؤلفون: Schneider, Ilona^{Aff1, Aff2}, Kugel, Harald, Redlich, Ronny, Grotegerd, Dominik, Bürger, Christian, Bürkner, Paul-Christian, Opel, Nils, Dohm, Katharina, Zaremba, Dario, Meinert, Susanne, Schröder, Nina, Straßburg, Anna Milena, Schwarte, Kathrin, Schettler, Christiane, Ambrée, Oliver^{Aff1, Aff5}, Rust, Stephan, Domschke, Katharina^{Aff1, Aff7}, Arolt, Volker^{Aff1, Aff2}, Heindel, Walter, Baune, Bernhard T, Zhang, Weiqi^{Aff1, Aff2}, Dannlowski, Udo^{Aff1, Aff2}, Hohoff, Christa^Aff1

المصدر: Neuropsychopharmacology: At the intersection of brain, behavior, and therapeutics. 43(6):1308-1316

المؤلفون: Zühlsdorf, Andrea, Park, Julien Heinrich, Wada, Yoshinao, Rust, Stephan, Reunert, Janine, DuChesne, Ingrid, Grüneberg, Marianne, Marquardt, Thorsten

المصدر: In Clinical Biochemistry January 2015 48(1-2):11-13

المؤلفون: Park, Julien Heinrich, Weissensteiner, Martin, Wagner, Oliver, Wada, Yoshinao, Rust, Stephan, Reunert, Janine, Marquardt, Thorsten

المصدر: Pediatric Nephrology: Journal of the InternationalPediatric Nephrology Association. August 2016 31(8):1283-1286