학술논문
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'학술논문'
에서 검색결과 341건 | 목록
1~20
Academic Journal
Roland Imle; Daniel Blösel; Felix K. F. Kommoss; Sara Placke; Eric Stutheit-Zhao; Christina Blume; Dmitry Lupar; Lukas Schmitt; Claudia Winter; Lena Wagner; Malte von Eicke; Hannah Walzer; Julia Förderer; Stephanie Laier; Michael Hertwig; Heike Peterziel; Ina Oehme; Sophia Scheuerman; Christian M. Seitz; Florian H. Geyer; Florencia Cidre-Aranaz; Thomas G. P. Grünewald; Christian Vokuhl; Priya Chudasama; Claudia Scholl; Claudia Schmidt; Patrick Günther; Martin Sill; Kevin B. Jones; Stefan M. Pfister; Robert J. Autry; Ana Banito
Nature Communications, Vol 16, Iss 1, Pp 1-20 (2025)
Academic Journal
Florencia Cidre-Aranaz; Claudia Magrin; Malenka Zimmermann; Jing Li; Annalisa Baffa; Matteo Ciccaldo; Wolfgang Hartmann; Uta Dirksen; Martina Sola; Paolo Paganetti; Thomas G. P. Grünewald; Stéphanie Papin
Cell Death Discovery, Vol 11, Iss 1, Pp 1-8 (2025)
Academic Journal
Arribas-Carreira, Laura; Dallabona, Cristina; Swanson, Michael A; Farris, Joseph; Østergaard, Elsebet; Tsiakas, Konstantinos; Hempel, Maja; Aquaviva-Bourdain, Cecile; Koutsoukos, Stefanos; Stence, Nicholas V; Magistrati, Martina; Spector, Elaine B; Kronquist, Kathryn; Christensen, Mette; Karstensen, Helena G; Feichtinger, René G; Achleitner, Melanie T; Lawrence Merritt Ii, J; Pérez, Belén; Ugarte, Magdalena; Grünewald, Stephanie; Riela, Anthony R; Julve, Natalia; Arnoux, Jean-Baptiste; Haldar, Kasturi; Donnini, Claudia; Santer, René; Lund, Allan M; Mayr, Johannes A; Rodriguez-Pombo, Pilar; Van Hove, Johan L K
Hum Mol Genet
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Biblos-e Archivo. Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
Arribas-Carreira, L, Dallabona, C, Swanson, M A, Farris, J, Østergaard, E, Tsiakas, K, Hempel, M, Aquaviva-Bourdain, C, Koutsoukos, S, Stence, N V, Magistrati, M, Spector, E B, Kronquist, K, Christensen, M, Karstensen, H G, Feichtinger, R G, Achleitner, M T, Lawrence Merritt Ii, J, Pérez, B, Ugarte, M,Grünewald , S, Riela, A R, Julve, N, Arnoux, J-B, Haldar, K, Donnini, C, Santer, R, Lund, A M, Mayr, J A, Rodriguez-Pombo, P & Van Hove, J L K 2023, ' Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency ', Human Molecular Genetics, vol. 32, no. 6, pp. 917-933 . https://doi.org/10.1093/hmg/ddac246
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Biblos-e Archivo. Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
Arribas-Carreira, L, Dallabona, C, Swanson, M A, Farris, J, Østergaard, E, Tsiakas, K, Hempel, M, Aquaviva-Bourdain, C, Koutsoukos, S, Stence, N V, Magistrati, M, Spector, E B, Kronquist, K, Christensen, M, Karstensen, H G, Feichtinger, R G, Achleitner, M T, Lawrence Merritt Ii, J, Pérez, B, Ugarte, M,
Academic Journal
Kiparissi, Fevronia; Dastamani, Antonia; Palm, Liina; Azabdaftari, Aline; Campos, Luis; Gaynor, Edward; Grünewald, Stephanie
Human Genetics. May, 2023, Vol. 142 Issue 5, p697, 8 p.
Academic Journal
Mengel, Eugen; Da Riol, Rosalia M.; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine Weller; Harmatz, Paul; Hennermann, Julia B.; Heron, Benedicte; Maier, Esther M.; Santra, Saikat; Sharma, Reena; Tylki-Szymanska, Anna; Cording, Malene; Himmelstrup, Louise; Guenther, Sven; Dali, Christine, I
Academic Journal
Mengel, Eugen; Patterson, Marc C.; Da Riol, Rosalia M.; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine Weller; Harmatz, Paul; Hennermann, Julia B.; Heronk, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; LaGorio, Lisa; Berry-Kravis, Elizabeth; Porter, Forbes D.; Solomon, Beth; Himmelstrup, Louise; Mickle, Travis; Guenther, Sven; Dali, Christine i
Academic Journal
Britt Derks; Didem Demirbas; Rodrigo R. Arantes; Samantha Banford; Alberto B. Burlina; Analía Cabrera; Ana Chiesa; M. Luz Couce; Carlo Dionisi-Vici; Matthias Gautschi; Stephanie Grünewald; Eva Morava; Dorothea Möslinger; Sabine Scholl-Bürgi; Anastasia Skouma; Karolina M. Stepien; David J. Timson; Gerard T. Berry; M. Estela Rubio-Gozalbo
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Academic Journal
Journal of Inherited Metabolic Disease. 43:145-155
Academic Journal
Holubova, Veronika; Barone, Rita; Grunewald, Stephanie; Tesarova, Marketa; Hansikova, Hana; Augustinova, Jana; Sykut-Cegielska, Jolanta; De Nictolis, Francesca; Diaz-Moreno, Unai; Elangovan, Ramyia; Epifani, Florencia; Gasperini, Serena; Jansen, Mirian; Lefeber, Dirk; Maksym-Gasiorek, Dorota; Diego, Martinelli; Ounap, Katrin; Pettinato, Fabio; Poder, Haide; Rymen, Daisy; Vals, Mari-Anne; Serrano, Mercedes; Witters, Peter; Honzik, Tomas
Academic Journal
Kuiper, Anouk; Grünewald, Stephanie; Murphy, Elaine; Coenen, Maraike A.; Eggink, Hendriekje; Zutt, Rodi; Rubio-Gozalbo, Maria E.; Bosch, Annet M.; Williams, Monique; Derks, Terry G. J.; Lachmann, Robin H. L.; Brouwers, Martijn C. G. J.; Janssen, Mirian C. H.; Tijssen, Marina A.; de Koning, Tom J.
Journal of Inherited Metabolic Disease, 42, 3, pp. 451-458
Academic Journal
Perera, Sue; Banerjee, Geetanjoli; Sikirica, Vanja; Kruger, Eliza; Combe, Emily; Barwood, Caroline; Czarnota-Bojarski, Sofie; Grunewald, Stephanie; Yap, Sufin
Academic Journal
Martin Grünewald MD; Esther Häge; Stephanie Lehnert; Christiane Maier PhD; Alexandra Schimke PhD; Peter Bramlage MD; Martina Güth MD
Clinical and Applied Thrombosis/Hemostasis, Vol 27 (2021)
Academic Journal
Posset, Roland; Garbade, Sven F; Boy, Nikolas; Burlina, Alberto B; Dionisi‐Vici, Carlo; Dobbelaere, Dries; Garcia‐Cazorla, Angeles; de Lonlay, Pascale; Teles, Elisa Leão; Vara, Roshni; Mew, Nicholas Ah; Batshaw, Mark L; Baumgartner, Matthias R; McCandless, Shawn E; Seminara, Jennifer; Summar, Marshall; Hoffmann, Georg F; Kölker, Stefan; Burgard, Peter; Berry, Susan A; Burrage, Lindsay; Coughlin, Curtis; Diaz, George A; Gallagher, Renata C; Gropman, Andrea; Harding, Cary O; Lee, Brendan; Le Mons, Cynthia; Lawrence Merritt, J; Nagamani, Sandesh CS; Schulze, Andreas; Stricker, Tamar; Tuchman, Mendel; Waisbren, Susan; WeisfeldAdams, James; Wong, Derek; Yudkoff, Marc; Arnoux, JeanBaptiste; Barić, Ivo; Bosch, Annet M; Chabrol, Brigitte; Chakrapani, Anupam; CortèsSaladefont, Elisenda; Couce, Maria L; Eyskens, Francois; Laet, Corine; Meirleir, Linda; Freisinger, Peter; Gleich, Florian; Grünewald, Stephanie; Häberle, Johannes; Hwu, WuhLiang; Jalan, Anil; Karall, Daniela; Lindner, Martin; Lund, Allan M; Martinelli, Diego; Murphy, Elaine; Mühlhausen, Chris; Olivieri, Giorgia; Ottolenghi, Chris; Rodrigues, Esmeralda; Rubert, Laura; Sarajlija, Adrijan; Schiff, Manuel; Sokal, Etienne; SykutCegielska, Jolanta; Walter, John H; Williams, Monique; Zeman, Jiri
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Posset, R, Garbade, S F, Boy, N, Burlina, A B, Dionisi-Vici, C, Dobbelaere, D, Garcia-Cazorla, A, de Lonlay, P, Teles, E L, Vara, R, Mew, N A, Batshaw, M L, Baumgartner, M R, McCandless, S E, Seminara, J, Summar, M, Hoffmann, G F, Kölker, S, Burgard, P, Additional individual contributors of the UCDC and the E-IMD consortium & Zeman, J 2019, 'Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases', Journal of Inherited Metabolic Disease, vol. 42, no. 1, pp. 93-106. https://doi.org/10.1002/jimd.12031
Journal of Inherited Metabolic Disease, Vol. 42, no. 1, p. 93-106 (2019)
Journal of Inherited Metabolic Disease, vol 42, iss 1
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Posset, R, Garbade, S F, Boy, N, Burlina, A B, Dionisi-Vici, C, Dobbelaere, D, Garcia-Cazorla, A, de Lonlay, P, Teles, E L, Vara, R, Mew, N A, Batshaw, M L, Baumgartner, M R, McCandless, S E, Seminara, J, Summar, M, Hoffmann, G F, Kölker, S, Burgard, P, Additional individual contributors of the UCDC and the E-IMD consortium & Zeman, J 2019, 'Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases', Journal of Inherited Metabolic Disease, vol. 42, no. 1, pp. 93-106. https://doi.org/10.1002/jimd.12031
Journal of Inherited Metabolic Disease, Vol. 42, no. 1, p. 93-106 (2019)
Journal of Inherited Metabolic Disease, vol 42, iss 1
Academic Journal
Grunewald, Olivier; Lopez, Benjamin; Brabant, Séverine; Rogeau, Stéphanie; Deschildre, Antoine; Phrommavanh, Vassana; Lefort, Marie; Moitrot, Emmanuelle; Gyselinckx, Dominique; Deleplancque, Anne-Sophie; Lefevre, Guillaume; Labalette, Myriam; Dubucquoi, Sylvain
Clinical Chemistry and Laboratory Medicine (CCLM). 56(8):1319-1327
Academic Journal
Mitchell J. Machiela; Thomas G. P. Grünewald; Didier Surdez; Stephanie Reynaud; Olivier Mirabeau; Eric Karlins; Rebeca Alba Rubio; Sakina Zaidi; Sandrine Grossetete-Lalami; Stelly Ballet; Eve Lapouble; Valérie Laurence; Jean Michon; Gaelle Pierron; Heinrich Kovar; Nathalie Gaspar; Udo Kontny; Anna González-Neira; Piero Picci; Javier Alonso; Ana Patino-Garcia; Nadège Corradini; Perrine Marec Bérard; Neal D. Freedman; Nathaniel Rothman; Casey L. Dagnall; Laurie Burdett; Kristine Jones; Michelle Manning; Kathleen Wyatt; Weiyin Zhou; Meredith Yeager; David G. Cox; Robert N. Hoover; Javed Khan; Gregory T. Armstrong; Wendy M. Leisenring; Smita Bhatia; Leslie L. Robison; Andreas E. Kulozik; Jennifer Kriebel; Thomas Meitinger; Markus Metzler; Wolfgang Hartmann; Konstantin Strauch; Thomas Kirchner; Uta Dirksen; Lindsay M. Morton; Lisa Mirabello; Margaret A. Tucker; Franck Tirode; Stephen J. Chanock; Olivier Delattre
Nature Communications, Vol 9, Iss 1, Pp 1-8 (2018)
Academic Journal
Welling, Lindsey; Bernstein, Laurie E; Berry, Gerard T; Burlina, Alberto B; Eyskens, François; Gautschi, Matthias; Grünewald, Stephanie; Gubbels, Cynthia S; Knerr, Ina; Labrune, Philippe; van der Lee, Johanna H; MacDonald, Anita; Murphy, Elaine; Portnoi, Pat A; Õunap, Katrin; Potter, Nancy L; Rubio-Gozalbo, M Estela; Spencer, Jessica B; Timmers, Inge; Treacy, Eileen P; Van Calcar, Sandra C; Waisbren, Susan E; Bosch, Annet M
J Inherit Metab Dis
Journal of inherited metabolic disease
Journal of inherited metabolic disease
Academic Journal
Koeberl, Dwight; Schulze, Andreas; Sondheimer, Neal; Lipshutz, Gerald S.; Geberhiwot, Tarekegn; Li, Lerong; Saini, Rajnish; Luo, Junxiang; Sikirica, Vanja; Jin, Ling; Liang, Min; Leuchars, Mary; Grunewald, Stephanie
Academic Journal
Shu-Hong Lin; Joshua N Sampson; Thomas G P Grünewald; Didier Surdez; Stephanie Reynaud; Olivier Mirabeau; Eric Karlins; Rebeca Alba Rubio; Sakina Zaidi; Sandrine Grossetête-Lalami; Stelly Ballet; Eve Lapouble; Valérie Laurence; Jean Michon; Gaelle Pierron; Heinrich Kovar; Udo Kontny; Anna González-Neira; Javier Alonso; Ana Patino-Garcia; Nadège Corradini; Perrine Marec Bérard; Jeremy Miller; Neal D Freedman; Nathaniel Rothman; Brian D Carter; Casey L Dagnall; Laurie Burdett; Kristine Jones; Michelle Manning; Kathleen Wyatt; Weiyin Zhou; Meredith Yeager; David G Cox; Robert N Hoover; Javed Khan; Gregory T Armstrong; Wendy M Leisenring; Smita Bhatia; Leslie L Robison; Andreas E Kulozik; Jennifer Kriebel; Thomas Meitinger; Markus Metzler; Manuela Krumbholz; Wolfgang Hartmann; Konstantin Strauch; Thomas Kirchner; Uta Dirksen; Lisa Mirabello; Margaret A Tucker; Franck Tirode; Lindsay M Morton; Stephen J Chanock; Olivier Delattre; Mitchell J Machiela
PLoS ONE, Vol 15, Iss 9, p e0237792 (2020)
Academic Journal
Panis, Bianca; Vos, E. Naomi; Baric, Ivo; Bosch, Annet M.; Brouwers, Martijn C. G. J.; Burlina, Alberto; Cassiman, David; Coman, David J.; Couce, Maria L.; Das, Anibh M.; Demirbas, Didem; Empain, Aurelie; Gautschi, Matthias; Grafakou, Olga; Grunewald, Stephanie; Kingma, Sandra D. K.; Knerr, Ina; Leao-Teles, Elisa; Moeslinger, Dorothea; Murphy, Elaine; Ounap, Katrin; Pane, Adriana; Paci, Sabrina; Parini, Rossella; Rivera, Isabel A.; Scholl-Buergi, Sabine; Schwartz, Ida V. D.; Sdogou, Triantafyllia; Shakerdi, Loai A.; Skouma, Anastasia; Stepien, Karolina M.; Treacy, Eileen P.; Waisbren, Susan; Berry, Gerard T.; Rubio-Gozalbo, M. Estela
Academic Journal
Kölker, Stefan; Valayannopoulos, Vassili; Burlina, Alberto B; Sykut-Cegielska, Jolanta; Wijburg, Frits A; Teles, Elisa Leão; Zeman, Jiří; Dionisi-Vici, Carlo; Barić, Ivo; Karall, Daniela; Arnoux, Jean-Baptiste; Avram, Paula; Baumgartner, Matthias R; Blasco-Alonso, Javier; Boy, S P Nikolas; Rasmussen, Marlene Bøgehus; Burgard, Peter; Chabrol, Brigitte; Chakrapani, Anupam; Chapman, Kimberly; Cortès I Saladelafont, Elisenda; Couce, Maria L; De Meirleir, Linda; Dobbelaere, Dries; Furlan, Francesca; Gleich, Florian; González, Maria Julieta; Gradowska, Wanda; Grünewald, Stephanie; Honzík, Tomáš; Hörster, Friederike; Ioannou, Hariklea; Jalan, Anil; Häberle, Johannes; Haege, Gisela; Langereis, Eveline; De Lonlay, Pascale; Martinelli, Diego; Matsumoto, Shirou; Mühlhausen, Chris; Murphy, Elaine; de Baulny, Hélène Ogier; Ortez, Carlos; Pedrón, Consuelo C; Pintos-Morell, Guillem; Pena-Quintana, Luis; Ramadža, Danijela Petković; Rodrigues, Esmeralda; Scholl-Bürgi, Sabine; Sokal, Etienne; Summar, Marshall L; Thompson, Nicholas; Vara, Roshni; Pinera, Inmaculada Vives; Walter, John H; Williams, Monique; Lund, Allan M; Garcia-Cazorla, Angeles; Garcia Cazorla, Angeles
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of Inherited Metabolic Disease[ISSN 0141-8955],v. 38(6), p. 1059-1074 (Noviembre 2015)
accedaCRIS portal de investigación de la Universidad de las Palmas de Gran Canaria
Fundació Sant Joan de Déu
Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Journal of inherited metabolic disease
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of Inherited Metabolic Disease[ISSN 0141-8955],v. 38(6), p. 1059-1074 (Noviembre 2015)
accedaCRIS portal de investigación de la Universidad de las Palmas de Gran Canaria
Fundació Sant Joan de Déu
Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Journal of inherited metabolic disease
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[검색어] Grünewald, Stephanie
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