학술논문
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Academic Journal
Nguyen, T; Lau, A; Bier, J; Cooke, KC; Lenthall, H; Ruiz-Diaz, S; Avery, DT; Brigden, H; Zahra, D; Sewell, WA; Droney, L; Okada, S; Asano, T; Abolhassani, H; Chavoshzadeh, Z; Abraham, RS; Rajapakse, N; Klee, EW; Church, JA; Williams, A; Wong, M; Burkhart, C; Uzel, G; Croucher, DR; James, DE; Ma, CS; Brink, R; Tangye, SG; Deenick, EK
The Journal of experimental medicine. 220(6)
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
Cogne, B; Ehresmann, S; Beauregard-Lacroix, E; Rousseau, J; Besnard, T; Garcia, T; Petrovski, S; Avni, S; McWalter, K; Blackburn, PR; Sanders, SJ; Uguen, K; Harris, J; Cohen, JS; Blyth, M; Lehman, A; Berg, J; Li, MH; Kini, U; Joss, S; von der Lippe, C; Gordon, CT; Humberson, JB; Robak, L; Scott, DA; Sutton, VR; Skraban, CM; Johnston, JJ; Poduri, A; Nordenskjold, M; Shashi, V; Gerkes, EH; Bongers, EMHF; Gilissen, C; Zarate, YA; Kvarnung, M; Lally, KP; Kulch, PA; Daniels, B; Hernandez-Garcia, A; Stong, N; McGaughran, J; Retterer, K; Tveten, K; Sullivan, J; Geisheker, MR; Stray-Pedersen, A; Tarpinian, JM; Klee, EW; Sapp, JC; Zyskind, J; Holla, OL; Bedoukian, E; Filippini, F; Guimier, A; Picard, A; Busk, OL; Punetha, J; Pfundt, R; Lindstrand, A; Nordgren, A; Kalb, F; Desai, M; Ebanks, AH; Jhangiani, SN; Dewan, T; Akdemir, ZHC; Telegrafi, A; Zackai, EH; Begtrup, A; Song, XF; Toutain, A; Wentzensen, IM; Odent, S; Bonneau, D; Latypova, X; Deb, W; Redon, S; Bilan, F; Legendre, M; Troyer, C; Whitlock, K; Caluseriu, O; Murphree, MI; Pichurin, PN; Agre, K; Gavrilova, R; Rinne, T; Park, M; Shain, C; Heinzen, EL; Xiao, R; Amiel, J; Lyonnet, S; Isidor, B; Biesecker, LG; Lowenstein, D; Posey, JE; Denomme-Pichon, AS; Ferec, C; Yang, XJ; Rosenfeld, JA; Gilbert-Dussardier, B; Audebert-Bellanger, S; Redon, R; Stessman, HAF; Nellaker, C; Yang, YP; Lupski, JR; Goldstein, DB; Eichler, EE; Bolduc, F; Bezieau, S; Kury, S; Campeau, PM
American journal of human genetics. 104(3):530-541
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
Academic Journal
Academic Journal
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