학술논문
'학술논문'
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1~10
Academic Journal
Klockner, C; Sticht, H; Zacher, P; Popp, B; Babcock, HE; Bakker, DP; Barwick, K; Bonfert, MV; Bonnemann, CG; Brilstra, EH; Chung, WK; Clarke, AJ; Devine, P; Donkervoort, S; Fraser, JL; Friedman, J; Gates, A; Ghoumid, J; Hobson, E; Horvath, G; Keller-Ramey, J; Keren, B; Kurian, MA; Lee, V; Leppig, KA; Lundgren, J; McDonald, MT; McTague, A; Mefford, HC; Mignot, C; Mikati, MA; Nava, C; Raymond, FL; Sampson, JR; Sanchis-Juan, A; Shashi, V; Shieh, JTC; Shinawi, M; Slavotinek, A; Stodberg, T; Stong, N; Sullivan, JA; Taylor, AC; Toler, TL; van den Boogaard, MJ; van der Crabben, SN; van Gassen, KLI; van Jaarsveld, RH; Van Ziffle, J; Wadley, AF; Wagner, M; Wigby, K; Wortmann, SB; Zarate, YA; Moller, RS; Lemke, JR; Platzer, K
Genetics in medicine : official journal of the American College of Medical Genetics. 23(4):653-660
Academic Journal
O'Donnell-Luria, AH; Pais, LS; Faundes, V; Wood, JC; Sveden, A; Luria, V; Abou Jamra, R; Accogli, A; Amburgey, K; Anderlid, BM; Azzarello-Burri, S; Basinger, AA; Bianchini, C; Bird, LM; Buchert, R; Carre, W; Ceulemans, S; Charles, P; Cox, H; Culliton, L; Curro, A; Demurger, F; Dowling, JJ; Duban-Bedu, B; Dubourg, C; Eiset, SE; Escobar, LF; Ferrarini, A; Haack, TB; Hashim, M; Heide, S; Helbig, KL; Helbig, I; Heredia, R; Heron, D; Isidor, B; Jonasson, AR; Joset, P; Keren, B; Kok, F; Kroes, HY; Lavillaureix, A; Lu, X; Maas, SM; Maegawa, GHB; Marcelis, CLM; Mark, PR; Masruha, MR; McLaughlin, HM; McWalter, K; Melchinger, EU; Mercimek-Andrews, S; Nava, C; Pendziwiat, M; Person, R; Ramelli, GP; Ramos, LLP; Rauch, A; Reavey, C; Renieri, A; Riess, A; Sanchez-Valle, A; Sattar, S; Saunders, C; Schwarz, N; Smol, T; Srour, M; Steindl, K; Syrbe, S; Taylor, JC; Telegrafi, A; Thiffault, I; Trauner, DA; van der Linden, H; van Koningsbruggen, S; Villard, L; Vogel, I; Vogt, J; Weber, YG; Wentzensen, IM; Widjaja, E; Zak, J; Baxter, S; Banka, S; Rodan, LH; Mcrae, JF; Clayton, S; Fitzgerald, TW; Kaplanis, J; Prigmore, E; Rajan, D; Sifrim, A; Aitken, S; Akawi, N; Alvi, M; Ambridge, K; Barrett, DM; Bayzetinova, T; Jones, P; Jones, WD; King, D; Krishnappa, N; Mason, LE; Singh, T; Tivey, AR; Ahmed, M; Anjum, U; Archer, H; Armstrong, R; Awada, J; Balasubramanian, M; Baralle, D; Barnicoat, A; Batstone, P; Baty, D; Bennett, C; Berg, J; Bernhard, B; Bevan, AP; Bitner-Glindzicz, M; Blair, E; Blyth, M; Bohanna, D; Bourdon, L; Bourn, D; Bradley, L; Brady, A; Brent, S; Brewer, C; Brunstrom, K; Bunyan, DJ; Burn, J; Canham, N; Castle, B; Chandler, K; Chatzimichali, E; Cilliers, D; Clarke, A; Clasper, S; Clayton-Smith, J; Clowes, V; Coates, A; Cole, T; Colgiu, I; Collins, A; Collinson, MN; Connell, F; Cooper, N; Cresswell, L; Cross, G; Crow, Y; D'Alessandro, M; Dabir, T; Davidson, R; Davies, S; de Vries, D; Dean, J; Deshpande, C; Devlin, G; Dixit, A; Dobbie, A; Donaldson, A; Donnai, D; Donnelly, D; Donnelly, C; Douglas, A; Douzgou, S; Duncan, A; Eason, J; Ellard, S; Ellis, I; Elmslie, F; Evans, K; Everest, S; Fendick, T; Fisher, R; Flinter, F; Foulds, N; Fry, A; Fryer, A; Gardiner, C; Gaunt, L; Ghali, N; Gibbons, R; Gill, H; Goodship, J; Goudie, D; Gray, E; Green, A; Greene, P; Greenhalgh, L; Gribble, S; Harrison, R; Harrison, L; Harrison, V; Hawkins, R; He, L; Hellens, S; Henderson, A; Hewitt, S; Hildyard, L; Hobson, E; Holden, S; Holder, M; Holder, S; Hollingsworth, G; Homfray, T; Humphreys, M; Hurst, J; Hutton, B; Ingram, S; Irving, M; Islam, L; Jackson, A; Jarvis, J; Jenkins, L; Johnson, D; Jones, E; Josifova, D; Joss, S; Kaemba, B; Kazembe, S; Kelsell, R; Kerr, B; Kingston, H; Kini, U; Kinning, E; Kirby, G; Kirk, C; Kivuva, E; Kraus, A; Kumar, D; Kumar, VKA; Lachlan, K; Lam, W; Lampe, A; Langman, C; Lees, M; Lim, D; Longman, C; Lowther, G; Lynch, SA; Magee, A; Maher, E; Male, A; Mansour, S; Marks, K; Martin, K; Maye, U; McCann, E; McConnell, V; McEntagart, M; McGowan, R; Mckay, K; Mckee, S; McMullan, DJ; McNerlan, S; McWilliam, C; Mehta, S; Metcalfe, K; Middleton, A; Miedzybrodzka, Z; Miles, E; Mohammed, S; Montgomery, T; Moore, D; Morgan, S; Morton, J; Mugalaasi, H; Murday, V; Murphy, H; Naik, S; Nemeth, A; Nevitt, L; Newbury-Ecob, R; Norman, A; O'Shea, R; Ogilvie, C; Ong, KR; Park, SM; Parker, MJ; Patel, C; Paterson, J; Payne, S; Perrett, D; Phipps, J; Pilz, DT; Pollard, M; Pottinger, C; Poulton, J; Pratt, N; Prescott, K; Price, S; Pridham, A; Procter, A; Purnell, H; Quarrell, O; Ragge, N; Rahbari, R; Randall, J; Rankin, J; Raymond, L; Rice, D; Robert, L; Roberts, E; Roberts, J; Roberts, P; Roberts, G; Ross, A; Rosser, E; Saggar, A; Samant, S; Sampson, J; Sandford, R; Sarkar, A; Schweiger, S; Scott, R; Scurr, I; Selby, A; Seller, A; Sequeira, C; Shannon, N; Sharif, S; Shaw-Smith, C; Shearing, E; Shears, D; Sheridan, E; Simonic, I; Singzon, R; Skitt, Z; Smith, A; Smith, K; Smithson, S; Sneddon, L; Splitt, M; Squires, M; Stewart, F; Stewart, H; Straub, V; Suri, M; Sutton, V; Swaminathan, GJ; Sweeney, E; Tatton-Brown, K; Taylor, C; Taylor, R; Tein, M; Temple, IK; Thomson, J; Tischkowitz, M; Tomkins, S; Torokwa, A; Treacy, B; Turner, C; Turnpenny, P; Tysoe, C; Vandersteen, A; Varghese, V; Vasudevan, P; Vijayarangakannan, P; Wakeling, E; Wallwark, S; Waters, J; Weber, A; Wellesley, D; Whiteford, M; Widaa, S; Wilcox, S; Wilkinson, E; Williams, D; Williams, N; Wilson, L; Woods, G; Wragg, C; Wright, M; Yates, L; Yau, M; Nellaker, C; Parker, M; Firth, HV; Wright, CF; FitzPatrick, DR; Barrett, JC; Hurles, ME
American journal of human genetics. 104(6):1210-1222
Academic Journal
Van Dijck, A; Vulto-van Silfhout, AT; Cappuyns, E; van der Werf, IM; Mancini, GM; Tzschach, A; Bernier, R; Gozes, I; Eichler, EE; Romano, C; Lindstrand, A; Nordgren, A; Kvarnung, M; Kleefstra, T; de Vries, BBA; Kury, S; Rosenfeld, JA; Meuwissen, ME; Vandeweyer, G; Kooy, RF; Bakshi, M; Wilson, M; Berman, Y; Dickson, R; Fransen, E; Helsmoortel, C; Van den Ende, J; Van der Aa, N; van de Wijdeven, MJ; Rosenblum, J; Monteiro, F; Kok, F; Quercia, N; Bowdin, S; Dyment, D; Chitayat, D; Alkhunaizi, E; Boonen, SE; Keren, B; Jacquette, A; Faivre, L; Bezieau, S; Isidor, B; Riess, A; Moog, U; Lynch, SA; McVeigh, T; Elpeleg, O; Smeland, MF; Fannemel, M; van Haeringen, A; Maas, SM; Veenstra-Knol, HE; Schouten, M; Willemsen, MH; Marcelis, CL; Ockeloen, C; van der Burgt, I; Feenstra, I; van der Smagt, J; Jezela-Stanek, A; Krajewska-Walasek, M; Gonzalez-Lamuno, D; Anderlid, BM; Malmgren, H; Nordenskjold, M; Clement, E; Hurst, J; Metcalfe, K; Mansour, S; Lachlan, K; Clayton-Smith, J; Hendon, LG; Abdulrahman, OA; Morrow, E; McMillan, C; Gerdts, J; Peeden, J; Vergano, SAS; Valentino, C; Chung, WK; Ozmore, JR; Bedrosian-Sermone, S; Dennis, A; Treat, K; Hughes, SS; Safina, N; Le Pichon, JB; McGuire, M; Infante, E; Madan-Khetarpal, S; Desai, S; Benke, P; Krokosky, A; Cristian, I; Baker, L; Gripp, K; Stessman, HA; Eichenberger, J; Jayakar, P; Pizzino, A; Manning, MA; Slattery, L
Biological psychiatry. 85(4):287-297
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
Le, TL; Galmiche, L; Levy, J; Suwannarat, P; Hellebrekers, DM; Morarach, K; Boismoreau, F; Theunissen, TEJ; Lefebvre, M; Pelet, A; Martinovic, J; Gelot, A; Guimiot, F; Calleroz, A; Gitiaux, C; Hully, M; Goulet, O; Chardot, C; Drunat, S; Capri, Y; Bole-Feysot, C; Nitschke, P; Whalen, S; Mouthon, L; Babcock, HE; Hofstra, R; de Coo, IFM; Tabet, AC; Molina, TJ; Keren, B; Brooks, A; Smeets, HJM; Marklund, U; Gordon, CT; Lyonnet, S; Amiel, J; Bondurand, N
The Journal of clinical investigation. 131(6)
Academic Journal
Stessman, HAF; Willemsen, MH; Fenckova, M; Penn, O; Hoischen, A; Xiong, B; Wang, TY; Hoekzema, K; Vives, L; Voge, I; Brunner, HG; van der Burgt, I; Ockeloen, CW; Schuurs-Hoeijmakers, JH; Wassink-Ruiter, JSK; Stumpel, C; Stevens, SJC; Vles, HS; Marcelis, CM; van Bokhoven, H; Cantagrel, V; Colleaux, L; Nicouleau, M; Lyonnet, S; Bernier, RA; Gerdts, J; Coe, BP; Romano, C; Alberti, A; Grillo, L; Scuderi, C; Nordenskjold, M; Kvarnung, M; Guo, H; Xia, K; Piton, A; Gerard, B; Genevieve, D; Delobel, B; Lehalle, D; Perrin, L; Prieur, F; Thevenon, J; Gecz, J; Shaw, M; Pfundt, R; Keren, B; Jacquette, A; Schenck, A; Eichler, EE; Kleefstra, Tz
American journal of human genetics. 98(3):541-552
Academic Journal
Shashi, V; Magiera, MM; Klein, D; Zaki, M; Schoch, K; Rudnik-Schoneborn, S; Norman, A; Neto, OLA; Dusl, M; Yuan, XD; Bartesaghi, L; De Marco, P; Alfares, AA; Marom, R; Arold, ST; Guzman-Vega, FJ; Pena, LDM; Smith, EC; Steinlin, M; Babiker, MOE; Mohassel, P; Foley, AR; Donkervoort, S; Kaur, R; Ghosh, PS; Stanley, V; Musaev, D; Nava, C; Mignot, C; Keren, B; Scala, M; Tassano, E; Picco, P; Doneda, P; Fiorillo, C; Issa, MY; Alassiri, A; Alahmad, A; Gerard, A; Liu, PF; Yang, YP; Ertl-Wagner, B; Kranz, PG; Wentzensen, IM; Stucka, R; Stong, N; Allen, AS; Goldstein, DB; Schoser, B; Rosler, KM; Alfadhel, M; Capra, V; Chrast, R; Strom, TM; Kamsteeg, EJ; Bonnemann, CG; Gleeson, JG; Martini, R; Janke, C; Senderek, J
The EMBO journal. 37(23)
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
Academic Journal
Klockner, C; Sticht, H; Zacher, P; Popp, B; Babcock, HE; Bakker, DP; Barwick, K; Bonfert, MV; Bonnemann, CG; Brilstra, EH; Chung, WK; Clarke, AJ; Devine, P; Donkervoort, S; Fraser, JL; Friedman, J; Gates, A; Ghoumid, J; Hobson, E; Horvath, G; Keller-Ramey, J; Keren, B; Kurian, MA; Lee, VA; Leppig, KA; Lundgren, J; McDonald, MT; McLaughlin, HM; McTague, A; Mefford, HC; Mignot, C; Mikati, MA; Nava, C; Raymond, FL; Sampson, JR; Sanchis-Juan, A; Shashi, V; Shieh, JTC; Shinawi, M; Slavotinek, A; Stodberg, T; Stong, N; Sullivan, JA; Taylor, AC; Toler, TL; van den Boogaard, MJ; van der Crabben, SN; van Gassen, KLI; van Jaarsveld, RH; Van Ziffle, J; Wadley, AF; Wagner, M; Wigby, K; Wortmann, SB; Zarate, YA; Moller, RS; Lemke, JR; Platzer, K
Genetics in medicine : official journal of the American College of Medical Genetics. 23(7):796-796
Academic Journal
Jin, SC; Lewis, SA; Bakhtiari, S; Zeng, X; Sierant, MC; Shetty, S; Nordlie, SM; Elie, A; Corbett, MA; Norton, BY; van Eyk, CL; Haider, S; Guida, BS; Magee, H; Liu, JM; Pastore, S; Vincent, JB; Brunstrom-Hernandez, J; Papavasileiou, A; Fahey, MC; Berry, JG; Harper, K; Zhou, CC; Zhang, JH; Li, BY; Heim, J; Webber, DL; Frank, MSB; Xia, L; Xu, YR; Zhu, DN; Zhang, BH; Sheth, AH; Knight, JR; Castaldi, C; Tikhonova, IR; Lopez-Giraldez, F; Keren, B; Whalen, S; Buratti, J; Doummar, D; Cho, MG; Retterer, K; Millan, F; Wang, YG; Waugh, JL; Rodan, L; Cohen, JS; Fatemi, A; inE; Phillips, JP; Feyma, T; MacLennan, SC; Vaughan, S; Crompton, KE; Reid, SM; Reddihough, DS; Shang, Q; Gao, C; Novak, I; Badawi, N; Wilson, YA; McIntyre, SJ; Mane, SM; Wang, XY; Amor, DJ; Zarnescu, DC; Lu, QS; Xing, QH; Zhu, CL; Bilguvar, K; Padilla-Lopez, S; Lifton, RP; Gecz, J; MacLennan, AH; Kruer, MC
Nature genetics. 52(10):1046
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