학술논문
'학술논문'
에서 검색결과 83건 | 목록
1~10
Academic Journal
Keller, R; Chrastina, P; Pavlikova, M; Gouveia, S; Ribes, A; Kolker, S; Blom, HJ; Baumgartner, MR; Bartl, J; Dionisi-Vici, C; Gleich, F; Morris, AA; Kozich, V; Huemer, M; Baric, I; Ben-Omran, T; Blasco-Alonso, J; Delgado, MA; Carducci, C; Cassanello, M; Cerone, R; Couce, ML; Crushell, E; Pecellin, CD; Dulin, E; Espada, M; Ferino, G; Fingerhut, R; Jimenez, IG; Gallego, IG; Gonzalez-Irazabal, Y; Gramer, G; Fita, MJJ; Karg, E; Klein, J; Konstantopoulou, V; la Marca, G; Teles, EL; Leuzzi, V; Lilliu, F; Lopez, RM; Lund, AM; Mayne, P; Meavilla, S; Moat, SJ; Okun, JG; Pasquini, E; Pedron-Giner, CC; Racz, GZ; Gomez, MAR; Vilarinho, L; Yahyaoui, R; Tansek, MZ; Zetterstrom, RH; Zeyda, M
Journal of inherited metabolic disease. 42(1):128-139
Academic Journal
BYRNE, S; U-KING-IM, J M; BODI, I; DIONISI-VICI, C; AL-GAZALI, L; AL-OWAIN, M; BROWN, N J; EL-GARHI, R; GERSHONI-BARUCH, R; FILLOUX, F; KAMATH, A; KOELKER, S; MANCHESTER, D; MANZUR, A; MANDEL, H; MEIN, R; MIYATA, R; PILZ, D; ROGERS, C C; RYAN, M; SAID, E; SCHARA, U; STEIN, A; SEWRY, C A; TRAVAN, L; WIJBURG, F A; YAU, S; FANTO, M; GAUTEL, M; JUNGBLUTH, H
Developmental Medicine & Child Neurology. Jan 01, 2015 57 Suppl 1:6-7
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
Recessive mutations in KIAA1632 cause Vici syndrome, a multisystem disorder with defective autophagy
Academic Journal
CULLUP, T; ABBS, S; DIONISI-VICI, C; BERTINI, E; MCCLELLAND, V M; AL-OWAIN, M; KOERNER, C; HOFFMANN, G; WIJBURG, F; TEN HOEDT, A E; ROGERS, C; MANCHESTER, D; MIYATA, R; HAYASHI, S; INAZAWA, J; SAID, E; KROISEL, P; WINDPASSINGER, C; BODI, I; GOEBEL, H H; SEWRY, C A; MOHAMMED, S; JOSIFOVA, D; GAUTEL, M; JUNGBLUTH, H
Developmental Medicine & Child Neurology. Jan 01, 2012 54 Suppl 1:5-6
Academic Journal
Blasi, P; Palmerio, F; Caldarola, S; Rizzo, C; Carrozzo, R; Gibson, K M; Novelletto, A; Deodato, F; Cappa, M; Dionisi-Vici, C; Malaspina, P
Clinical Genetics. Mar 01, 2006 69(3):294-296
Academic Journal
Academic Journal
Acta Paediatrica. Apr 01, 2004 93 Suppl 445:18-21
Academic Journal
Salvi, S; Santorelli, F M; Bertini, E; Boldrini, R; Meli, C; Donati, A; Burlina, A B; Rizzo, C; Di Capua, M; Fariello, G; Dionisi-Vici, C
Neurology; 2001 Sep 11, Vol. 57 Issue 5, p911-914, 4p
Academic Journal
Francalanci, P; Eymard-Pierre, E; Dionisi-Vici, C; Boldrini, R; Piemonte, F; Virgili, R; Fariello, G; Bosman, C; Santorelli, F M; Boespflug-Tanguy, O; Bertini, E
Neurology; 2001 Jul 24, Vol. 57 Issue 2, p265-270, 6p
Academic Journal
Carrozzo, R; Tessa, A; Vázquez-Memije, M E; Piemonte, F; Patrono, C; Malandrini, A; Dionisi-Vici, C; Vilarinho, L; Villanova, M; Schägger, H; Federico, A; Bertini, E; Santorelli, F M
Neurology; 2001 Mar 13, Vol. 56 Issue 5, p687-690, 4p
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