학술논문
'학술논문'
에서 검색결과 126건 | 목록
1~10
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
Lam, MT; Coppola, S; Krumbach, OHF; Prencipe, G; Insalaco, A; Cifaldi, C; Brigida, I; Zara, E; Scala, S; Di Cesare, S; Martinelli, S; Di Rocco, M; Pascarella, A; Niceta, M; Pantaleoni, F; Ciolfi, A; Netter, P; Carisey, AF; Diehl, M; Akbarzadeh, M; Conti, F; Merli, P; Pastore, A; Mortera, SL; Camerini, S; Farina, L; Buchholzer, M; Pannone, L; Cao, TN; Coban-Akdemir, ZH; Jhangiani, SN; Muzny, DM; Gibbs, RA; Basso-Ricci, L; Chiriaco, M; Dvorsky, R; Putignani, L; Carsetti, R; Janning, P; Stray-Pedersen, A; Erichsen, HC; Horne, A; Bryceson, YT; Torralba-Raga, L; Ramme, K; Rosti, V; Bracaglia, C; Messia, V; Palma, P; Finocchi, A; Locatelli, F; Chinn, IK; Lupski, JR; Mace, EM; Cancrini, C; Aiuti, A; Ahmadian, MR; Orange, JS; De Benedetti, F; Tartaglia, M
The Journal of experimental medicine. 216(12):2778-2799
Academic Journal
Mehta, A; Kuter, DJ; Salek, SS; Belmatoug, N; Bembi, B; Bright, J; vom Dahl, S; Deodato, F; Di Rocco, M; Goker-Alpan, O; Hughes, DA; Lukina, EA; Machaczka, M; Mengel, E; Nagral, A; Nakamura, K; Narita, A; Oliveri, B; Pastores, G; Perez-Lopez, J; Ramaswami, U; Schwartz, IV; Szer, J; Weinreb, NJ; Zimran, A
Internal medicine journal. 49(5):578-591
Academic Journal
Biegstraaten, M; Cox, TM; Belmatoug, N; Berger, MG; Collin-Histed, T; Dahl, SV; Di Rocco, M; Fraga, C; Giona, F; Giraldo, P; Hasanhodzic, M; Hughes, DA; Iversen, PO; Kiewiet, AI; Lukina, E; Machaczka, M; Marinakis, T; Mengel, E; Pastores, GM; Plockinger, U; Rosenbaum, H; Serratrice, C; Symeonidis, A; Szer, J; Timmerman, J; Tylki-Szymanska, A; Hubshman, MW; Zafeiriou, DI; Zimran, A; Hollak, CEM
Blood cells, molecules & diseases. 68:203-208
Academic Journal
Crow, YJ; Chase, DS; Schmidt, JL; Szynkiewicz, M; Forte, GMA; Gornall, HL; Oojageer, A; Anderson, B; Pizzino, A; Helman, G; Abdel-Hamid, MS; Abdel-Salam, GM; Ackroyd, S; Aeby, A; Agosta, G; Albin, C; Allon-Shalev, S; Arellano, M; Ariaudo, G; Aswani, V; Babul-Hirji, R; Baildam, EM; Bahi-Buisson, N; Bailey, KM; Barnerias, C; Barth, M; Battini, R; Beresford, MW; Bernard, G; Bianchi, M; de Villemeur, TB; Blair, EM; Bloom, M; Burlina, AB; Carpanelli, ML; Carvalho, DR; Castro-Gago, M; Cavallini, A; Cereda, C; Chandler, KE; Chitayat, DA; Collins, AE; Corcoles, CS; Cordeiro, NJV; Crichiutti, G; Dabydeen, L; Dale, RC; D'Arrigo, S; De Goede, CGEL; De Laet, C; De Waele, LMH; Denzler, I; Desguerre, I; Devriendt, K; Di Rocco, M; Fahey, MC; Fazzi, E; Ferrie, CD; Figueiredo, A; Gener, B; Goizet, C; Gowrinathan, NR; Gowrishankar, K; Hanrahan, D; Isidor, B; Kara, L; Khan, N; King, MD; Kirk, EP; Kumar, R; Lagae, L; Landrieu, P; Lauffer, H; Laugel, V; La Piana, R; Lim, MJ; Lin, JPSM; Linnankivi, T; Mackay, MT; Marom, DR; Lourenco, CM; McKee, SA; Moroni, I; Morton, JEV; Moutard, ML; Murray, K; Nabbout, R; Nampoothiri, S; Nunez-Enamorado, N; Oades, PJ; Olivieri, I; Ostergaard, JR; Perez-Duenas, B; Prendiville, JS; Ramesh, V; Rasmussen, M; Regal, L; Ricci, F; Rio, M; Rodriguez, D; Roubertie, A; Salvatici, E; Segers, KA; Sinha, GP; Soler, D; Spiegel, R; Stodberg, TI; Straussberg, R; Swoboda, KJ; Suri, M; Tacke, U; Tan, TY; Naude, JT; Teik, KW; Thomas, MM; Till, M; Tonduti, D; Valente, EM; Van Coster, RN; van der Knaap, MS; Vassallo, G; Vijzelaar, R; Vogt, J; Wallace, GB; Wassmer, E; Webb, HJ; Whitehouse, WP; Whitney, RN; Zaki, MS; Zuberi, SM; Livingston, JH; Rozenberg, F; Lebon, P; Vanderver, A; Orcesi, S; Rice, GI
American journal of medical genetics. Part A. 167(167A):296-312
Academic Journal
Canossi, A; Papola, F; Liberatore, G; Del Beato, T; Piancatelli, D; Tessitore, A; Vicentini, M.T; Maccarone, D; Aureli, A; Cervelli, C; Di Rocco, M; Casciani, C.U; Adorno, D
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
Mehta, A; Kuter, DJ; Salek, SS; Belmatoug, N; Bembi, B; Bright, J; Dahl, SV; Deodato, F; Di Rocco, M; Goker-Alpan, O; Hughes, DA; Lukina, EA; Machaczka, M; Mengel, E; Nagral, A; Nakamura, K; Narita, A; Oliveri, B; Pastores, G; Perez-Lopez, J; Ramaswami, U; Schwartz, IV; Szer, J; Weinreb, NJ; Zimran, A
Internal medicine journal. 49(8):1059-1059
Academic Journal
In European Journal of Paediatric Neurology May 2000 4(3):115-117
Academic Journal
Jung, C; Dagoneau, N; Baujat, G; Le Merrer, M; David, A; Di Rocco, M; Hamel, B; Mégarbané, A; Superti-Furga, A; Unger, S; Munnich, A; Cormier-Daire, V
Clinical Genetics. Mar 01, 2010 77(3):266-272
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