학술논문
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Academic Journal
Rosenhahn, E; O'Brien, TJ; Zaki, MS; Sorge, I; Wieczorek, D; Rostasy, K; Vitobello, A; Nambot, S; Alkuraya, FS; Hashem, MO; Alhashem, A; Tabarki, B; Alamri, AS; Al Safar, AH; Bubshait, DK; Alahmady, NF; Gleeson, JG; Abdel-Hamid, MS; Lesko, N; Ygberg, S; Correia, SP; Wredenberg, A; Alavi, S; Seyedhassani, SM; Nasab, ME; Hussien, H; Omar, TEI; Harzallah, I; Touraine, R; Tajsharghi, H; Morsy, H; Houlden, H; Shahrooei, M; Ghavideldarestani, M; Abdel-Salam, GMH; Torella, A; Zanobio, M; Terrone, G; Brunetti-Pierri, N; Omrani, A; Hentschel, J; Lemke, JR; Sticht, H; Abou Jamra, R; Brown, AEX; Maroofian, R; Platzer, K
American journal of human genetics. 109(8):1421-1435
Academic Journal
Radio, FC; Pang, KF; Ciolfi, A; Levy, MA; Hernandez-Garcia, A; Pedace, L; Pantaleoni, F; Liu, ZD; de Boer, E; Jackson, A; Bruselles, A; McConkey, H; Stellacci, E; Lo Cicero, S; Motta, M; Carrozzo, R; Dentici, ML; McWalter, K; Desai, M; Monaghan, KG; Telegrafi, A; Philippe, C; Vitobello, A; Au, M; Grand, K; Sanchez-Lara, PA; Baez, J; Lindstrom, K; Kulch, P; Sebastian, J; Madan-Khetarpal, S; Roadhouse, C; MacKenzie, JJ; Monteleone, B; Saunders, CJ; Cuevas, JKJ; Cross, L; Zhou, DH; Hartley, T; Sawyer, SL; Monteiro, FP; Secches, TV; Kok, F; Schultz-Rogers, LE; Macke, EL; Morava, E; Klee, EW; Kemppainen, J; Iascone, M; Selicorni, A; Tenconi, R; Amor, DJ; Pais, L; Gallacher, L; Turnpenny, PD; Stals, K; Ellard, S; Cabet, S; Lesca, G; Pascal, J; Steindl, K; Ravid, S; Weiss, K; Castle, AMR; Carter, MT; Kalsner, L; de Vries, BBA; van Bon, BW; Wevers, MR; Pfundt, R; Stegmann, APA; Kerr, B; Kingston, HM; Chandler, KE; Sheehan, W; Elias, AF; Shinde, DN; Towne, MC; Robin, NH; Goodloe, D; Vanderver, A; Sherbini, O; Bluske, K; Hagelstrom, RT; Zanus, C; Faletra, F; Musante, L; Kurtz-Nelson, EC; Earl, RK; Anderlid, BM; Morin, G; van Slegtenhorst, M; Diderich, KEM; Brooks, AS; Gribnau, J; Boers, RG; Finestra, TR; Carter, LB; Rauch, A; Gasparini, P; Boycott, KM; Barakat, TS; Graham, JM; Faivre, L; Banka, S; Wang, TY; Eichler, EE; Priolo, M; Dallapiccola, B; Vissers, LELM; Sadikovic, B; Scott, DA; Holder, JL; Tartaglia, M
American journal of human genetics. 108(3):502-516
Academic Journal
Rodriguez-Palmero, A; Boerrigter, MM; Gomez-Andres, D; Aldinger, KA; Marcos-Alcalde, I; Popp, B; Everman, DB; Lovgren, AK; Arpin, S; Bahrambeigi, V; Beunders, G; Bisgaard, AM; Bjerregaard, VA; Bruel, AL; Challman, TD; Cogne, B; Coubes, C; de Man, SA; Denomme-Pichon, AS; Dye, TJ; Elmslie, F; Feuk, L; Garcia-Minaur, S; Gertler, T; Giorgio, E; Gruchy, N; Haack, TB; Haldeman-Englert, CR; Haukanes, BI; Hoyer, J; Hurst, ACE; Isidor, B; Soller, MJ; Kushary, S; Kvarnung, M; Landau, YE; Leppig, KA; Lindstrand, A; Kleinendorst, L; MacKenzie, A; Mandrile, G; Mendelsohn, BA; Moghadasi, S; Morton, JE; Moutton, S; Muuller, AJ; O'Leary, M; Pacio-Miguez, M; Palomares-Bralo, M; Parikh, S; Pfundt, R; Pode-Shakked, B; Rauch, A; Repnikova, E; Revah-Politi, A; Ross, MJ; Ruivenkamp, CAL; Sarrazin, E; Savatt, JM; Schluter, A; Schonewolf-Greulich, B; Shad, Z; Shaw-Smith, C; Shieh, JT; Shohat, M; Spranger, S; Thiese, H; Mau-Them, FT; van Bon, B; van de Burgt, I; van de Laar, IMBH; van Drie, E; van Haelst, MM; van Ravenswaaij-Arts, CM; Verdura, E; Vitobello, A; Waldmuller, S; Whiting, S; Zweier, C; Prada, CE; de Vries, BBA; Dobyns, WB; Reiter, SF; Gomez-Puertas, P; Pujol, A; Tumer, Z
Genetics in medicine : official journal of the American College of Medical Genetics. 23(5):888-899
Academic Journal
Gillentine, MA; Wang, TY; Hoekzema, K; Rosenfeld, J; Liu, PF; Guo, H; Kim, CN; De Vries, BBA; Vissers, LELM; Nordenskjold, M; Kvarnung, M; Lindstrand, A; Nordgren, A; Gecz, J; Iascone, M; Cereda, A; Scatigno, A; Maitz, S; Zanni, G; Bertini, E; Zweier, C; Schuhmann, S; Wiesener, A; Pepper, M; Panjwani, H; Torti, E; Abid, F; Anselm, I; Srivastava, S; Atwal, P; Bacino, CA; Bhat, G; Cobian, K; Bird, LM; Friedman, J; Wright, MS; Callewaert, B; Petit, F; Mathieu, S; Afenjar, A; Christensen, CK; White, KM; Elpeleg, O; Berger, I; Espineli, EJ; Fagerberg, C; Brasch-Andersen, C; Hansen, LK; Feyma, T; Hughes, S; Thiffault, I; Sullivan, B; Yan, S; Keller, K; Keren, B; Mignot, C; Kooy, F; Meuwissen, M; Basinger, A; Kukolich, M; Philips, M; Ortega, L; Drummond-Borg, M; Lauridsen, M; Sorensen, K; Lehman, A; Lopez-Rangel, E; Levy, P; Lessel, D; Lotze, T; Madan-Khetarpal, S; Sebastian, J; Vento, J; Vats, D; Benman, LM; Mckee, S; Mirzaa, GM; Muss, C; Pappas, J; Peeters, H; Romano, C; Elia, M; Galesi, O; Simon, MEH; van Gassen, KLI; Simpson, K; Stratton, R; Syed, S; Thevenon, J; Palafoll, IV; Vitobello, A; Bournez, M; Faivre, L; Xia, K; Earl, RK; Nowakowski, T; Bernier, RA; Eichler, EE
Genome medicine. 13(1):63
Conference
Denomme-Pichon, AS; de Boer, E; Jackson, A; Benetti, E; Banka, S; Casari, G; Ciolfi, A; Clayton-Smith, J; Dallapiccola, B; Ellwanger, K; Faivre, L; Gilissen, C; Graessner, H; Haack, TB; Hammarsjo, A; Havlovicova, M; Hoischen, A; Hugon, A; Kleefstra, T; Lindstrand, A; Lopez-Martin, E; Macek, M; Matalonga, L; Morleo, M; Nigro, V; Nordgren, A; Pettersson, M; Pinelli, M; Pizzi, S; Posada, M; Radio, FC; Renieri, A; Rooryck, C; Ryba, L; Schwarz, M; Tartaglia, M; Thauvin, C; Torella, A; Trimouille, A; Votypka, P; Vyshka, K; Zurek, B; Verloes, A; Vitobello, A; Vissers, L
EUROPEAN JOURNAL OF HUMAN GENETICS. 30(SUPPL 1):236-237
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