학술논문
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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
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
Alcantara, D; Timms, AE; Gripp, K; Baker, L; Park, K; Collins, S; Cheng, C; Stewart, F; Mehta, SG; Saggar, A; Sztriha, L; Zombor, M; Caluseriu, O; Mesterman, R; Van Allen, MI; Jacquinet, A; Ygberg, S; Bernstein, JA; Wenger, AM; Guturu, H; Bejerano, G; Gomez-Ospina, N; Lehman, A; Alfei, E; Pantaleoni, C; Conti, V; Guerrini, R; Moog, U; Graham, JM; Hevner, R; Dobyns, WB; O'Driscoll, M; Mirzaa, GM
Brain : a journal of neurology. 140(10):2610-2622
Academic Journal
Klaassens, M; Reinstein, E; Hilhorst-Hofstee, Y; Schrander, JJP; Malfait, F; Staal, H; ten Have, LC; Blaauw, J; Roggeveen, HCJ; Krakow, D; De Paepe, A; van Steensel, MAM; Pals, G; Graham, JM; Schrander-Stumpel, CTRM
Periodical
Cochlear Implants International; March 2002, Vol. 3 Issue: 1 p68-74, 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
Academic Journal
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