학술논문
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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
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
Banka, S; Howard, E; Bunstone, S; Chandler, KE; Kerr, B; Lachlan, K; McKee, S; Mehta, SG; Tavares, ALT; Tolmie, J; Donnai, D
Academic Journal
de Die-Smulders, CEM; Höweler, CJ; Thijs, C; Mirandolle, JF; Anten, HB; Smeets, HJM; Chandler, KE; Geraedts, JPM
Brain: A Journal of Neurology; Aug1998, Vol. 121 Issue 8, p1557-1563, 7p
Conference
Radio, FC; Pang, KF; Ciolfi, A; Levy, MA; Pedace, L; de Boer, E; Jackson, A; Stellacci, E; Lo Cicero, S; Dentici, ML; McWalter, K; Sanchez-Lara, PA; Lindstrom, K; Madan-Khetarpal, S; MacKenzie, JJ; Monteleone, B; Zhou, DH; Sawyer, SL; Monteiro, FP; Macke, EL; Iascone, M; Selicorni, A; Tenconi, R; Amor, DJ; Stals, K; Cabet, S; Steindl, K; Weiss, K; Castle, AMR; Kalsner, L; Chandler, KE; Sheehan, W; Shinde, DN; Goodloe, D; Bluske, K; Faletra, F; Kurtz-Nelson, EC; Anderlid, BM; Barakat, TS; Graham, JM; Faivre, L; Banka, S; Wang, TY; Priolo, M; Dallapiccola, B; Vissers, LELM; Sadikovic, B; Scott, DA; Holder, JL; Tartaglia, M
EUROPEAN JOURNAL OF HUMAN GENETICS. 30(SUPPL 1):25-26
Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16
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