학술논문
'학술논문'
에서 검색결과 272건 | 목록
1~10
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
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
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. 42(1)
Academic Journal
Derks, Britt; Demirbas, Didem; Arantes, Rodrigo R.; Banford, Samantha; Burlina, Alberto B.; Cabrera, Analía; Chiesa, Ana; Couce, M. Luz; Dionisi-Vici, Carlo; Gautschi, Matthias; Grünewald, Stephanie; Morava, Eva; Möslinger, Dorothea; Scholl-Bürgi, Sabine; Skouma, Anastasia; Stepien, Karolina M.; Timson, David J.; Berry, Gerard T.; Rubio-Gozalbo, M. Estela
Orphanet Journal of Rare Diseases. 17(1)
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
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
Gurung, Sonam; Karamched, Saketh; Perocheau, Dany; Seunarine, Kiran K.; Baldwin, Tom; Al-Rashidi, Haya; Touramanidou, Loukia; Duff, Claire; Elkhateeb, Nour; Stepien, Karolina M.; Sharma, Reena; Morris, Andrew; Hartley, Thomas; Crowther, Laura; Grunewald, Stephanie; Cleary, Maureen; Mundy, Helen; Chakrapani, Anupam; Batzios, Spyros; Davison, James; Footitt, Emma; Tuschl, Karin; Lachmann, Robin; Murphy, Elaine; Santra, Saikat; Uudelepp, Mari-Liis; Yeo, Mildrid; Finn, Patrick F.; Cavedon, Alex; Siddiqui, Summar; Rice, Lisa; Martini, Paolo G. V.; Frassetto, Andrea; Heales, Simon; Mills, Philippa B.; Gissen, Paul; Clayden, Jonathan D.; Clark, Christopher A.; Eaton, Simon; Kalber, Tammy L.; Baruteau, Julien
Academic Journal
Yilmaz, Berna Seker; Baruteau, Julien; Chakrapani, Anupam; Champion, Michael; Chronopoulou, Efstathia; Claridge, Lee C.; Daly, Anne; Davies, Catherine; Davison, James; Dhawan, Anil; Grunewald, Stephanie; Gupte, Girish L.; Heaton, Nigel; Lemonde, Hugh; Mckiernan, Pat; Mills, Philippa; Morris, Andrew A. M.; Mundy, Helen; Pierre, Germaine; Rajwal, Sanjay; Sivananthan, Siyamini; Sreekantam, Srividya; Stepien, Karolina M.; Vara, Roshni; Yeo, Mildrid; Gissen, Paul
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
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
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