학술논문
'학술논문'
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1~10
Academic Journal
Helbig, KL; Lauerer, RJ; Bahr, JC; Souza, IA; Myers, CT; Uysal, B; Schwarz, N; Gandini, MA; Huang, S; Keren, B; Mignot, C; Afenjar, A; de Villemeur, TB; Heron, D; Nava, C; Valence, S; Buratti, J; Fagerberg, CR; Soerensen, KP; Kibaek, M; Kamsteeg, EJ; Koolen, DA; Gunning, B; Schelhaas, HJ; Kruer, MC; Fox, J; Bakhtiari, S; Jarrar, R; Padilla-Lopez, S; Lindstrom, K; Jin, SC; Zeng, X; Bilguvar, K; Papavasileiou, A; Xin, QH; Zhu, CL; Boysen, K; Vairo, F; Lanpher, BC; Klee, EW; Tillema, JM; Payne, ET; Cousin, MA; Kruisselbrink, TM; Wick, MJ; Baker, J; Haan, E; Smith, N; Corbett, MA; MacLennan, AH; Gecz, J; Biskup, S; Goldmann, E; Rodan, LH; Kichula, E; Segal, E; Jackson, KE; Asamoah, A; Dimmock, D; McCarrier, J; Botto, LD; Filloux, F; Tvrdik, T; Cascino, GD; Klingerman, S; Neumann, C; Wang, R; Jacobsen, JC; Nolan, MA; Snell, RG; Lehnert, K; Sadleir, LG; Anderlid, BM; Kvarnung, M; Guerrini, R; Friez, MJ; Lyons, MJ; Leonhard, J; Kringlen, G; Casas, K; El Achkar, CM; Smith, LA; Rotenberg, A; Poduri, A; Sanchis-Juan, A; Carss, KJ; Rankin, J; Zeman, A; Raymond, FL; Blyth, M; Kerr, B; Ruiz, K; Urquhart, J; Hughes, I; Banka, S; Hedrich, UBS; Scheffer, IE; Helbig, I; Zamponi, GW; Lerche, H; Mefford, HC
American journal of human genetics. 103(5):666-678
Academic Journal
Helbig, KL; Lauerer, RJ; Bahr, JC; Souza, IA; Myers, CT; Uysal, B; Schwarz, N; Gandini, MA; Huang, S; Keren, B; Mignot, C; Afenjar, A; de Villemeur, TB; Heron, D; Nava, C; Valence, S; Buratti, J; Fagerberg, CR; Soerensen, KP; Kibaek, M; Kamsteeg, EJ; Koolen, DA; Gunning, B; Schelhaas, HJ; Kruer, MC; Fox, J; Bakhtiari, S; Jarrar, R; Padilla-Lopez, S; Lindstrom, K; Jin, SC; Zeng, X; Bilguvar, K; Papavasileiou, A; Xing, QH; Zhu, CL; Boysen, K; Vairo, F; Lanpher, BC; Klee, EW; Tillema, JM; Payne, ET; Cousin, MA; Kruisselbrink, TM; Wick, MJ; Baker, J; Haan, E; Smith, N; Sadeghpour, A; Davis, EE; Katsanis, N; Corbett, MA; MacLennan, AH; Gecz, J; Biskup, S; Goldmann, E; Rodan, LH; Kichula, E; Segal, E; Jackson, KE; Asamoah, A; Dimmock, D; McCarrier, J; Botto, LD; Filloux, F; Tvrdik, T; Cascino, GD; Klingerman, S; Neumann, C; Wang, R; Jacobsen, JC; Nolan, MA; Snell, RG; Lehnert, K; Sadleir, LG; Anderlid, BM; Kvarnung, M; Guerrini, R; Friez, MJ; Lyons, MJ; Leonhard, J; Kringlen, G; Casas, K; El Achkar, CM; Smith, LA; Rotenberg, A; Poduri, A; Sanchis-Juan, A; Carss, KJ; Rankin, J; Zeman, A; Raymond, FL; Blyth, M; Kerr, B; Ruiz, K; Urquhart, J; Hughes, I; Banka, S; Hedrich, UBS; Scheffer, IE; Helbig, I; Zamponi, GW; Lerche, H; Mefford, HC
American journal of human genetics. 104(3):562-562
Electronic Resource
Bar, C; Kuchenbuch, M; Barcia, G; Schneider, A; Jennesson, M; Le Guyader, G; Lesca, G; Mignot, C; Montomoli, M; Parrini, E; Isnard, H; Rolland, A; Keren, B; Afenjar, A; Dorison, N; Sadleir, LG; Breuillard, D; Levy, R; Rio, M; Dupont, S; Negrin, S; Danieli, A; Scalais, E; De Saint Martin, A; El Chehadeh, S; Chelly, J; Poisson, A; Lebre, A-S; Nica, A; Odent, S; Sekhara, T; Brankovic, V; Goldenberg, A; Vrielynck, P; Lederer, D; Maurey, H; Terrone, G; Besmond, C; Hubert, L; Berquin, P; Billette de Villemeur, T; Isidor, B; Freeman, JL; Mefford, HC; Myers, CT; Howell, KB; Rodriguez-Sacristan Cascajo, A; Meyer, P; Genevieve, D; Guet, A; Doummar, D; Durigneux, J; van Dooren, MF; de Wit, MCY; Gerard, M; Marey, I; Munnich, A; Guerrini, R; Scheffer, IE; Kabashi, E; Nabbout, R
Electronic Resource
Carvill, GL; Helbig, KL; Myers, CT; Scala, M; Huether, R; Lewis, S; Kruer, TN; Guida, BS; Bakhtiari, S; Sebe, J; Tang, S; Stickney, H; Oktay, SU; Bhandiwad, AA; Ramsey, K; Narayanan, V; Feyma, T; Rohena, LO; Accogli, A; Severino, M; Hollingsworth, G; Gill, D; Depienne, C; Nava, C; Sadleir, LG; Caruso, PA; Lin, AE; Jansen, FE; Koeleman, B; Brilstra, E; Willemsen, MH; Kleefstra, T; Sa, J; Mathieu, M-L; Perrin, L; Lesca, G; Striano, P; Casari, G; Scheffer, IE; Raible, D; Sattlegger, E; Capra, V; Padilla-Lopez, S; Mefford, HC; Kruer, MC
Electronic Resource
Schneider, AL; Myers, CT; Muir, AM; Calvert, S; Basinger, A; Perry, MS; Rodan, L; Helbig, KL; Chambers, C; Gorman, KM; King, MD; Donkervoort, S; Soldatos, A; Bonnemann, CG; Spataro, N; Gabau, E; Arellano, M; Cappuccio, G; Brunetti-Pierri, N; Rossignol, E; Hamdan, FF; Michaud, JL; Balak, C; Mefford, HC; Scheffer, IE
Electronic Resource
Vlaskamp, DRM; Shaw, BJ; Burgess, R; Mei, D; Montomoli, M; Xie, H; Myers, CT; Bennett, MF; XiangWei, W; Williams, D; Maas, SM; Brooks, AS; Mancini, GMS; van de Laar, IMBH; van Hagen, JM; Ware, TL; Webster, RI; Malone, S; Berkovic, SF; Kalnins, RM; Sicca, F; Korenke, GC; van Ravenswaaij-Arts, CMA; Hildebrand, MS; Mefford, HC; Jiang, Y; Guerrini, R; Scheffer, IE
Electronic Resource
Salpietro, V; Dixon, CL; Guo, H; Bello, OD; Vandrovcova, J; Efthymiou, S; Maroofian, R; Heimer, G; Burglen, L; Valence, S; Torti, E; Hacke, M; Rankin, J; Tariq, H; Colin, E; Procaccio, V; Striano, P; Mankad, K; Lieb, A; Chen, S; Pisani, L; Bettencourt, C; Mannikko, R; Manole, A; Brusco, A; Grosso, E; Ferrero, GB; Armstrong-Moron, J; Gueden, S; Bar-Yosef, O; Tzadok, M; Monaghan, KG; Santiago-Sim, T; Person, RE; Cho, MT; Willaert, R; Yoo, Y; Chae, J-H; Quan, Y; Wu, H; Wang, T; Bernier, RA; Xia, K; Blesson, A; Jain, M; Motazacker, MM; Jaeger, B; Schneider, AL; Boysen, K; Muir, AM; Myers, CT; Gavrilova, RH; Gunderson, L; Schultz-Rogers, L; Klee, EW; Dyment, D; Osmond, M; Parellada, M; Llorente, C; Gonzalez-Penas, J; Carracedo, A; Van Haeringen, A; Ruivenkamp, C; Nava, C; Heron, D; Nardello, R; Iacomino, M; Minetti, C; Skabar, A; Fabretto, A; Chez, M; Tsai, A; Fassi, E; Shinawi, M; Constantino, JN; De Zorzi, R; Fortuna, S; Kok, F; Keren, B; Bonneau, D; Choi, M; Benzeev, B; Zara, F; Mefford, HC; Scheffer, IE; Clayton-Smith, J; Macaya, A; Rothman, JE; Eichler, EE; Kullmann, DM; Houlden, H; Raspall-Chaure, M; Hanna, MG; Bugiardini, E; Hostettler, I; O'Callaghan, B; Khan, A; Cortese, A; O'Connor, E; Yau, WY; Bourinaris, T; Kaiyrzhanov, R; Chelban, V; Madej, M; Diana, MC; Vari, MS; Pedemonte, M; Bruno, C; Balagura, G; Scala, M; Fiorillo, C; Nobili, L; Malintan, NT; Zanetti, MN; Krishnakumar, SS; Lignani, G; Jepson, JEC; Broda, P; Baldassari, S; Rossi, P; Fruscione, F; Madia, F; Traverso, M; De-Marco, P; Perez-Duenas, B; Munell, F; Kriouile, Y; El-Khorassani, M; Karashova, B; Avdjieva, D; Kathom, H; Tincheva, R; Van-Maldergem, L; Nachbauer, W; Boesch, S; Gagliano, A; Amadori, E; Goraya, JS; Sultan, T; Kirmani, S; Ibrahim, S; Jan, F; Mine, J; Banu, S; Veggiotti, P; Zuccotti, G; Ferrari, MD; Van Den Maagdenberg, AMJ; Verrotti, A; Marseglia, GL; Savasta, S; Soler, MA; Scuderi, C; Borgione, E; Chimenz, R; Gitto, E; Dipasquale, V; Sallemi, A; Fusco, M; Cuppari, C; Cutrupi, MC; Ruggieri, M; Cama, A; Capra, V; Mencacci, NE; Boles, R; Gupta, N; Kabra, M; Papacostas, S; Zamba-Papanicolaou, E; Dardiotis, E; Maqbool, S; Rana, N; Atawneh, O; Lim, SY; Shaikh, F; Koutsis, G; Breza, M; Coviello, DA; Dauvilliers, YA; AlKhawaja, I; AlKhawaja, M; Al-Mutairi, F; Stojkovic, T; Ferrucci, V; Zollo, M; Alkuraya, FS; Kinali, M; Sherifa, H; Benrhouma, H; Turki, IBY; Tazir, M; Obeid, M; Bakhtadze, S; Saadi, NW; Zaki, MS; Triki, CC; Benfenati, F; Gustincich, S; Kara, M; Belcastro, V; Specchio, N; Capovilla, G; Karimiani, EG; Salih, AM; Okubadejo, NU; Ojo, OO; Oshinaike, OO; Oguntunde, O; Wahab, K; Bello, AH; Abubakar, S; Obiabo, Y; Nwazor, E; Ekenze, O; Williams, U; Iyagba, A; Taiwo, L; Komolafe, M; Senkevich, K; Shashkin, C; Zharkynbekova, N; Koneyev, K; Manizha, G; Isrofilov, M; Guliyeva, U; Salayev, K; Khachatryan, S; Rossi, S; Silvestri, G; Haridy, N; Ramenghi, LA; Xiromerisiou, G; David, E; Aguennouz, M; Fidani, L; Spanaki, C; Tucci, A
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