학술논문
'학술논문'
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Academic Journal
Wiessner, M; Maroofian, R; Ni, MY; Pedroni, A; Muller, JS; Stucka, R; Beetz, C; Efthymiou, S; Santorelli, FM; Alfares, AA; Zhu, CL; Meszarosova, AU; Alehabib, E; Bakhtiari, S; Janecke, AR; Otero, MG; Chen, JYH; Peterson, JT; Strom, TM; De Jonghe, P; Deconinck, T; De Ridder, W; De Winter, J; Pasquariello, R; Ricca, I; Alfadhel, M; van de Warrenburg, BP; Portier, R; Bergmann, C; Firouzabadi, SG; Jin, SC; Bilguvar, K; Hamed, S; Abdelhameed, M; Haridy, NA; Maqbool, S; Rahman, F; Anwar, N; Carmichael, J; Pagnamenta, A; Wood, NW; Mau-Them, FT; Haack, T; Di Rocco, M; Ceccherini, I; Iacomino, M; Zara, F; Salpietro, V; Scala, M; Rusmini, M; Xu, YR; Wang, YH; Suzuki, Y; Koh, K; Nan, HT; Ishiura, H; Tsuji, S; Lambert, L; Schmitt, E; Lacaze, E; Kupper, H; Dredge, D; Skraban, C; Goldstein, A; Willis, MJH; Grand, K; Graham, JM; Lewis, RA; Millan, F; Duman, O; Dundar, N; Uyanik, G; Schols, L; Nurnberg, P; Nurnberg, G; Bordes, AC; Seeman, P; Kuchar, M; Darvish, H; Rebelo, A; Boucanova, F; Medard, JJ; Chrast, R; Auer-Grumbach, M; Alkuraya, FS; Shamseldin, H; Al Tala, S; Varaghchi, JR; Najafi, M; Deschner, S; Glaser, D; Huttel, W; Kruer, MC; Kamsteeg, EJ; Takiyama, Y; Zuchner, S; Baets, J; Synofzik, M; Schule, R; Horvath, R; Houlden, H; Bartesaghi, L; Lee, HJ; Ampatzis, K; Pierson, TM; Senderek, J
Brain : a journal of neurology. 144(5):1422-1434
Academic Journal
Rinaldi, C; Schmidt, T; Situ, AJ; Johnson, JO; Lee, PR; Chen, KL; Bott, LC; Fado, R; Harmison, GH; Parodi, S; Grunseich, C; Renvoise, B; Biesecker, LG; De Michele, G; Santorelli, FM; Filla, A; Stevanin, G; Durr, A; Brice, A; Casals, N; Traynor, BJ; Blackstone, C; Ulmer, TS; Fischbeck, KH
JAMA neurology. 72(5):561-570
Academic Journal
American Journal of Human Genetics. 58(5)
Academic Journal
Carrozzo, R; Verrigni, D; Rasmussen, M; de Coo, R; Amartino, H; Bianchi, M; Buhas, D; Mesli, S; Naess, K; Born, AP; Woldseth, B; Prontera, P; Batbayli, M; Ravn, K; Joensen, F; Cordelli, DM; Santorelli, FM; Tulinius, M; Darin, N; Duno, M; Jouvencel, P; Burlina, A; Stangoni, G; Bertini, E; Redonnet-Vernhet, I; Wibrand, F; Dionisi-Vici, C; Uusimaa, J; Vieira, P; Osorio, AN; McFarland, R; Taylor, RW; Holme, E; Ostergaard, E
Journal of inherited metabolic disease. 39(2):243-252
Academic Journal
Acta Paediatrica. Apr 01, 2004 93 Suppl 445:65-67
Academic Journal
Cephalalgia. Jan 01, 2004 24(1):74-77
Academic Journal
Clinical Genetics. Jun 01, 2002 61(6):465-467
Academic Journal
Manneschi, L.; Battisti, C; Pesci, I; Malandrini, A; Santorelli, FM; Scaglioni, A; Federico, A; Montanari, E
Academic Journal
D'Amico, A; Tessa, A; Bruno, C; Petrini, S; Biancheri, R; Pane, M; Pedemonte, M; Ricci, E; Falace, A; Rossi, A; Mercuri, E; Santorelli, FM; Bertini, E
Academic Journal
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[AR] Santorelli, FM
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