학술논문
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1~10
Academic Journal
Gruenert, SC; Gautschi, M; Baker, J; Boyer, M; Burlina, A; Casswall, T; Corpeleijn, W; Ciki, K; Cotter, M; Crushell, E; Derks, TGJ; Haas, D; Kilavuz, S; Kingma, SDK; Korman, SH; Kozek, A; de Laet, C; Mundy, H; Nassogne, MC; Quintero, V; Rossi, A; Spenger, J; Spiegel, R; Stephenne, X; Stojkov, D; Tal, G; Cunha, MVD; Wortmann, SB
Molecular genetics and metabolism. 142(2):108486
Academic Journal
Heard, JM; Vrinten, C; Schlander, M; Bellettato, CM; van Lingen, C; Scarpa, M; Matthijs, G; Nassogne, MC; Debray, FG; Roland, D; Chamova, T; Kozich, V; Pavel, J; Zenker, M; Lampe, C; Das, AM; Hennermann, J; Kolker, S; Weinhold, N; Mohnike, K; Gruenert, S; Lund, AM; Morales-Conejo, M; del Toro-Riera, M; Aldamiz-Echevarria, L; Garcia-Silva, MT; Schiff, M; Gouya, L; Labrune, P; de Lonlay, P; Belmatoug, N; Germain, DP; Cano, A; Dobbelaere, D; Jones, S; Dawson, C; Deegan, P; Santra, S; Vijay, S; Ramadza, DP; Baric, I; Zigman, T; Pflieger, G; Szakszon, K; Kaposta, R; Gasperini, S; Burlina, A; Parenti, G; Strisciuglio, P; Ceccarini, G; Federico, A; Simonati, A; Tumiene, B; Huidekoper, H; van Spronsen, F; Bosch, A; Rubio-Gozalbo, ME; Visser, G; Tangeraas, T; Aarsand, A; Kiec-Wilk, B; Gaspar, AMSM; Quelhas, D; Leao-Teles, E; Azevedo, O; Silva, EMFR; Matos, LMDFD; Martins, E; Lajic, S; Darin, N; Groselj, U; Tansek, MZ
Orphanet journal of rare diseases. 15(1):3
Academic Journal
Marques, R; Belousoye, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; D'Amato, L; d'Augeres, GB; de Vries, PJ; Ferreira, JC; Feucht, M; Fladrowski, C; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Nabbout, R; O'Callaghan, F; Qin, J; Sander, V; Sauter, M; Shah, S; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Kingswood, JC; Jansen, AC; Shinohara, N; LIorie, S; Kubota, M; Tohyama, J; Imai, K; Kaneda, M; Kaneko, H; Uchida, Y; Kirino, T; Endo, S; Inoue, Y; Uruno, K; Serdaroglu, A; Yapici, Z; Anlar, B; Altunbasak, S; Lvova, O; Belyaev, OV; Agranovich, O; Levitina, EV; Maksimova, YV; Karas, A; Jiang, YW; Zou, LP; Xu, KF; Zhang, YS; Luan, GM; Zhang, YQ; Wang, Y; Jin, ML; Ye, DW; Liao, WP; Zhou, LM; Liu, J; Liao, JX; Yan, B; Deng, YC; Jiang, L; Liu, ZS; Huang, SP; Li, H; Kim, K; Chen, PL; Lee, HF; Tsai, JD; Chi, CS; Huang, CC; Riney, AK; Yates, D; Kwan, P; Likasitwattanakul, S; Nabangchang, C; Chomtho, LTK; Katanyuwong, K; Sriudomkajorn, S; Wilmshurst, J; Segel, R; Gilboa, T; Tzadok, M; Fattal-Valevski, A; Papathanasopoulos, P; Papavasiliou, AS; Giannakodimos, S; Gatzonis, S; Pavlou, E; Tzoufi, M; Vergeer, AMM; Dhooghe, M; Verhelst, H; Roelens, F; Nassogne, MC; Defresne, P; De Waele, L; Leroy, P; Demonceau, N; Legros, B; Van Bogaert, P; Ceulemans, B; Dom, L; Castelnau, P; Martin, AD; Riquet, A; Milh, M; Cances, C; Pedespan, JM; Ville, D; Roubertie, A; Auvin, S; Berquin, P; Richelme, C; Allaire, C; Gueden, S; Tich, SNT; Godet, B; Rojas, MLRF; Planas, JC; Bermejo, AM; Dura, PS; Aparicio, SR; Gonzalez, MJM; Pison, JL; Barca, MOB; Laso, EL; Luengo, OA; Rodriguez, FJA; Dieguez, IM; Salas, AC; Carrera, IM; Salcedo, EM; Petri, MEY; Candela, RC; Carrilho, ID; Vieira, JP; Monteiro, JPDO; Leao, MJSDF; Luis, CSMR; Mendonca, CP; Endziniene, M; Strautmanis, J; Talvik, I; Canevini, MP; Gambardella, A; Pruna, D; Buono, S; Fontana, E; Dalla Bernardina, B; Burloiu, C; Cosma, ISB; Vintan, MA; Popescu, L; Zitterbart, K; Payerova, J; Bratsky, L; Zilinska, Z; Gruber-Sedlmayr, U; Baumann, M; Laberlandt, EI; Rostasy, K; Pataraia, E; Elmslie, F; Johnston, CA; Crawford, P; Uldall, P; Uvebrant, P; Rask, O; Bjoernvold, M; Brodtkorb, E; Sloerdahi, A; Solhoff, R; Jaatun, MSG; Mandera, M; Radzikowska, EJ; Wysocki, M; Fischereder, M; Kurlemann, G; Wilken, B; Wiemer-Kruel, A; Budde, K; Marquard, K; Knuf, M; Hahn, A; Hartmann, H; Merkenschlager, A; Trollmann, R
Frontiers in neurology. 10:1144
Academic Journal
Jansen, AC; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; D'Amato, L; d'Augeres, GB; de Vries, PJ; Ferreira, JC; Feucht, M; Fladrowski, C; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Marques, R; Nabbout, R; O'Callaghan, F; Qin, J; Sander, V; Sauter, M; Shah, S; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Kingswood, JC; Shinohara, N; Horie, S; Kubota, M; Tohyama, J; Imai, K; Kaneda, M; Kaneko, H; Uchida, Y; Kirino, T; Endo, S; Inoue, Y; Uruno, K; Serdaroglu, A; Yapici, Z; Anlar, B; Altunbasak, S; Lvova, O; Belyaev, OV; Agranovich, O; Levitina, EV; Maksimova, YV; Karas, A; Jiang, YW; Zou, LP; Xu, KF; Zhang, YS; Luan, GM; Zhang, YQ; Wang, Y; Jin, ML; Ye, DW; Liao, WP; Zhou, LM; Liu, J; Liao, JX; Yan, B; Deng, YC; Jiang, L; Liu, ZS; Huang, SP; Li, H; Kim, K; Chen, PL; Lee, HF; Tsai, JD; Chi, CS; Huang, CC; Riney, K; Yates, D; Kwan, P; Likasitwattanakul, S; Nabangchang, C; Chomtho, LTK; Katanyuwong, K; Sriudomkajorn, S; Wilmshurst, J; Segel, R; Gilboa, T; Tzadok, M; Fattal-Valevski, A; Papathanasopoulos, P; Papavasiliou, AS; Giannakodimos, S; Gatz, S; Pavlou, E; Tzoufi, M; Vergeer, AMH; Dhooghe, M; Verhelst, H; Roelens, F; Nassogne, MC; Defresne, P; De Waele, L; Leroy, P; Demonceau, N; Legros, B; Van Bogaert, P; Ceulemans, B; Dom, L; Castelnau, P; Martin, AD; Riquet, A; Milh, M; Cances, C; Pedespan, JM; Ville, D; Roubertie, A; Auvin, S; Berquin, P; Richelme, C; Allaire, C; Gueden, S; Tich, SNT; Godet, B; Rojas, MLRF; Planas, JC; Bermejo, AM; Dura, PS; Aparicio, SR; Gonzalez, MJM; Pison, JL; Barca, MOB; Laso, EL; Luengo, OA; Rodriguez, FJA; Dieguez, IM; Salas, AC; Carrera, IM; Salcedo, EM; Petri, MEY; Candela, RC; Carrilho, ID; Vieira, JP; Monteiro, JPDO; Leao, MJSDF; Luis, CSMR; Mendonca, CP; Endziniene, M; Strautmanis, J; Talvik, I; Canevini, MP; Gambardella, A; Pruna, D; Buono, S; Fontana, E; Dalla Bernardina, B; Burloiu, C; Cosma, ISB; Vintan, MA; Popescu, L; Zitterbart, K; Payerova, J; Bratsky, L; Zilinska, Z; Gruber-Sedlmayr, U; Baumann, M; Haberland, E; Rostasy, K; Pataraia, E; Elmslie, F; Johnston, CA; Crawford, P; Uldall, P; Uvebrant, P; Rask, O; Bjoernvold, M; Brodtkorb, E; Sloerdahl, A; Solhoff, R; Jaatun, MSG; Mandera, M; Radzikowska, EJ; Wysocki, M; Fischereder, M; Kurlemann, G; Wilken, B; Wiemer-Kruel, A; Budde, K; Marquard, K; Knuf, M; Hahn, A; Hartmann, H; Merkenschlager, A; Trollmann, R
Frontiers in neurology. 10:705
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
Gosset, P.; Faivre, L.; Cormier-Daire, V.; Guirgeal, I.; Odent, S.; Amiel, J.; Nassogne, MC.; Munnich, A.; Romana, S.; Prieur, M.; Vekemans, M.; Turleau, C.; De Blois, MC.
American Journal of Human Genetics. Oct, 2001, Vol. 69 Issue 4, 312
Academic Journal
Faivre, L; Gosset, P; Cormier-Dairel, V; Odent, S; Amiel, J; Giurgea, I; Nassogne, MC; Pasquier, L; Munnich, A; Romana, S; Prieur, M; Vekemans, M; de Blois, MC; Turleau, C
Academic Journal
Academic Journal
Hermoye, L; Saint-Maitin, C; Cosnard, G; Lee, SK; Kim, J; Nassogne, MC; Menten, R; Clapuyt, P; Donohue, PK; Hua, KG; Wakana, S; Jiang, HY; van Zijl, PCM; Mori, S
Academic Journal
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