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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
Current genetics. 60(1):11-16
Electronic Resource
Kayumi, S; Perez-Jurado, LA; Palomares, M; Rangu, S; Sheppard, SE; Chung, WK; Kruer, MC; Kharbanda, M; Amor, DJ; McGillivray, G; Cohen, JS; Garcia-Minaur, S; van Eyk, CL; Harper, K; Jolly, LA; Webber, DL; Barnett, CP; Santos-Simarro, F; Pacio-Miguez, M; del Pozo, A; Bakhtiari, S; Deardorff, M; Dubbs, HA; Izumi, K; Grand, K; Gray, C; Mark, PR; Bhoj, EJ; Li, D; Ortiz-Gonzalez, XR; Keena, B; Zackai, EH; Goldberg, EM; de Nanclares, GP; Pereda, A; Llano-Rivas, I; Arroyo, I; Fernandez-Cuesta, MA; Thauvin-Robinet, C; Faivre, L; Garde, A; Mazel, B; Bruel, A-L; Tress, ML; Brilstra, E; Fine, AS; Crompton, KE; Stegmann, APA; Sinnema, M; Stevens, SCJ; Nicolai, J; Lesca, G; Lion-Francois, L; Haye, D; Chatron, N; Piton, A; Nizon, M; Cogne, B; Srivastava, S; Bassetti, J; Muss, C; Gripp, KW; Procopio, RA; Millan, F; Morrow, MM; Assaf, M; Moreno-De-Luca, A; Joss, S; Hamilton, MJ; Bertoli, M; Foulds, N; McKee, S; MacLennan, AH; Gecz, J; Corbett, MA
Electronic Resource
Electronic Resource
Sheppard, SE; Campbell, IM; Harr, MH; Gold, N; Li, D; Bjornsson, HT; Cohen, JS; Fahrner, JA; Fatemi, A; Harris, JR; Nowak, C; Stevens, CA; Grand, K; Au, M; Graham, JM; Sanchez-Lara, PA; Del Campo, M; Jones, MC; Abdul-Rahman, O; Alkuraya, FS; Bassetti, JA; Bergstrom, K; Bhoj, E; Dugan, S; Kaplan, JD; Derar, N; Gripp, KW; Hauser, N; Innes, AM; Keena, B; Kodra, N; Miller, R; Nelson, B; Nowaczyk, MJ; Rahbeeni, Z; Ben-Shachar, S; Shieh, JT; Slavotinek, A; Sobering, AK; Abbott, M-A; Allain, DC; Amlie-Wolf, L; Au, PYB; Bedoukian, E; Beek, G; Barry, J; Berg, J; Bernstein, JA; Cytrynbaum, C; Chung, BH-Y; Donoghue, S; Dorrani, N; Eaton, A; Flores-Daboub, JA; Dubbs, H; Felix, CA; Fong, C-T; Fung, JLF; Gangaram, B; Goldstein, A; Greenberg, R; Ha, TK; Hersh, J; Izumi, K; Kallish, S; Kravets, E; Kwok, P-Y; Jobling, RK; Johnson, AEK; Kushner, J; Lee, BH; Levin, B; Lindstrom, K; Manickam, K; Mardach, R; McCormick, E; McLeod, DR; Mentch, FD; Minks, K; Muraresku, C; Nelson, SF; Porazzi, P; Pichurin, PN; Powell-Hamilton, NN; Powis, Z; Ritter, A; Rogers, C; Rohena, L; Ronspies, C; Schroeder, A; Stark, Z; Starr, L; Stoler, J; Suwannarat, P; Velinov, M; Weksberg, R; Wilnai, Y; Zadeh, N; Zand, DJ; Falk, MJ; Hakonarson, H; Zackai, EH; Quintero-Rivera, F
Electronic Resource
Li, D; Wang, Q; Gong, NN; Kurolap, A; Feldman, HB; Boy, N; Brugger, M; Grand, K; McWalter, K; Sacoto, MJG; Wakeling, E; Hurst, J; March, ME; Bhoj, EJ; Nowaczyk, MJM; Gonzaga-Jauregui, C; Mathew, M; Dava-Wala, A; Siemon, A; Bartholomew, D; Huang, Y; Lee, H; Martinez-Agosto, JA; Schwaibold, EMC; Brunet, T; Choukair, D; Pais, LS; White, SM; Christodoulou, J; Brown, D; Lindstrom, K; Grebe, T; Tiosano, D; Kayser, MS; Tan, TY; Deardorff, MA; Song, Y; Hakonarson, H
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