학술논문
'학술논문'
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1~10
Academic Journal
Maas, RR; Iwanicka-Pronicka, K; Ucar, SK; Alhaddad, B; AlSayed, M; Al-Owain, MA; Al-Zaidan, HI; Balasubramaniam, S; Baric, I; Bubshait, DK; Burlina, A; Christodoulou, J; Chung, WK; Colombo, R; Darin, N; Freisinger, P; Silva, MTG; Grunewald, S; Haack, TB; van Hasselt, PM; Hikmat, O; Horster, F; Isohanni, P; Ramzan, K; Kovacs-Nagy, R; Krumina, Z; Martin-Hernandez, E; Mayr, JA; McClean, P; De Meirleir, L; Naess, K; Ngu, LH; Pajdowska, M; Rahman, S; Riordan, G; Riley, L; Roeben, B; Rutsch, F; Santer, R; Schiff, M; Seders, M; Sequeira, S; Sperl, W; Staufner, C; Synofzik, M; Taylor, RW; Trubicka, J; Tsiakas, K; Unal, O; Wassmer, E; Wedatilake, Y; Wolff, T; Prokisch, H; Morava, E; Pronicka, E; Wevers, RA; de Brouwer, AP; Wortmann, SB
Annals of neurology. 82(6):1004-1015
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
Wraith, JE; Scarpa, M; Beck, M; Bodamer, OA; De Meirleir, L; Guffon, N; Lund, AM; Malm, G; Van der Ploeg, AT; Zeman, J
European journal of pediatrics. 167(3):267-277
Academic Journal
Lardelli, Rea M; Schaffer, Ashleigh E; Eggens, Veerle RC; Zaki, Maha S; Grainger, Stephanie; Sathe, Shashank; Van Nostrand, Eric L; Schlachetzki, Zinayida; Rosti, Basak; Akizu, Naiara; Scott, Eric; Silhavy, Jennifer L; Heckman, Laura Dean; Rosti, Rasim Ozgur; Dikoglu, Esra; Gregor, Anne; Guemez-Gamboa, Alicia; Musaev, Damir; Mande, Rohit; Widjaja, Ari; Shaw, Tim L; Markmiller, Sebastian; Marin-Valencia, Isaac; Davies, Justin H; de Meirleir, Linda; Kayserili, Hulya; Altunoglu, Umut; Freckmann, Mary Louise; Warwick, Linda; Chitayat, David; Blaser, Susan; Çağlayan, Ahmet Okay; Bilguvar, Kaya; Per, Huseyin; Fagerberg, Christina; Christesen, Henrik T; Kibaek, Maria; Aldinger, Kimberly A; Manchester, David; Matsumoto, Naomichi; Muramatsu, Kazuhiro; Saitsu, Hirotomo; Shiina, Masaaki; Ogata, Kazuhiro; Foulds, Nicola; Dobyns, William B; Chi, Neil C; Traver, David; Spaccini, Luigina; Bova, Stefania Maria; Gabriel, Stacey B; Gunel, Murat; Valente, Enza Maria; Nassogne, Marie-Cecile; Bennett, Eric J; Yeo, Gene W; Baas, Frank; Lykke-Andersen, Jens; Gleeson, Joseph G
Nature Genetics. 49(3)
Academic Journal
Heard, JM; Bellettato, C; Lingen, C; Scarpa, M; Debray, FG; Nassogne, MC; van Coster, R; De Meirleir, L; Eyskens, F; Morava, E; Baric, I; Kozich, V; Lund, AM; Germain, D; Belmatoug, N; Guffon, N; Labrune, P; Gouya, L; De Lonlay, P; Schiff, M; Dobbelaere, D; Chabrol, B; Ploeckinger, U; Das, AM; Spiekerkoetter, U; Rutsch, F; Mohnike, K; Hahn, A; Kolker, S; Ullrich, K; Hennermann, J; Balogh, I; Bembi, B; Donati, MA; Gasperini, S; Parenti, G; Salviati, A; Vici, CD; Di Rocco, M; Cefalo, G; Burlina, A; Ceccarini, G; Federico, A; Van der Ploeg, A; Rubio-Gozalbo, ME; Van Spronsen, F; Visser, G; Bosch, A; Tangeraas, T; Sanderberg, S; Kiec-Wilk, B; Gaspar, AMSM; Martins, E; Silva, EMFR; Matos, LMDFD; Azevedo, O; Tansek, MZ; Couce-Pico, ML; Cazorla, AG; Azuara, LAE; Del Toro-Riera, M; Silva, MTG; Lajic, S; Darin, N; Deegan, P; Vijay, S; Chronopolou, E; Jones, S; Chakrapani, A; Hiwot, T
Orphanet journal of rare diseases. 14(1):119
Academic Journal
Kathryn G. Sterling; Griffin Kutler Dodd; Shatha Alhamdi; Peter G. Asimenios; Ruben K. Dagda; Kenny L. De Meirleir; Dorothy Hudig; Vincent C. Lombardi
International Journal of Molecular Sciences, Vol 23, Iss 21, p 13328 (2022)
Academic Journal
Sofou, K; de Coo, IFM; Ostergaard, E; Isohanni, P; Naess, K; De Meirleir, L; Tzoulis, C; Uusimaa, J; Lonnqvist, T; Bindoff, LA; Tulinius, M; Darin, N
Journal of medical genetics. 55(1):21-27
Academic Journal
Emmanuel Scalais; Elise Osterheld; Christine Geron; Charlotte Pierron; Ronit Chafai; Vincent Schlesser; Patricia Borde; Luc Regal; Hilde Laeremans; Koen L. I. vanGassen; L. Bert van denHeuvel; Linda De Meirleir
JIMD Reports, Vol 49, Iss 1, Pp 70-79 (2019)
Academic Journal
Wortmann, SB; van Hasselt, PM; Baric, I; Burlina, A; Darin, N; Horster, F; Coker, M; Ucar, SK; Krumina, Z; Naess, K; Ngu, LH; Pronicka, E; Riordan, G; Santer, R; Wassmer, E; Zschocke, J; Schiff, M; de Meirleir, L; Alowain, MA; Smeitink, JAM; Morava, E; Kozicz, T; Wevers, RA; Wolf, NI; Willemsen, MA
Neuropediatrics. 46(2):98-103
Academic Journal
Sofou, K; De Coo, IFM; Isohanni, P; Ostergaard, E; Naess, K; De Meirleir, L; Tzoulis, C; Uusimaa, J; De Angst, IB; Lonnqvist, T; Pihko, H; Mankinen, K; Bindoff, LA; Tulinius, M; Darin, N
Orphanet journal of rare diseases. 9:52
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