학술논문
'학술논문'
에서 검색결과 320건 | 목록
1~10
Academic Journal
Tesi, B; Boileau, C; Boycott, KM; Canaud, G; Caulfield, M; Choukair, D; Hill, S; Spielmann, M; Wedell, A; Wirta, V; Nordgren, A; Lindstrand, A
Journal of internal medicine. 294(4):397-412
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
Acuna-Hidalgo, R; Schanze, D; Kariminejad, A; Nordgren, A; Kariminejad, MH; Conner, P; Grigelioniene, G; Nilsson, D; Nordenskjold, M; Wedell, A; Freyer, C; Wredenberg, A; Wieczorek, D; Gillessen-Kaesbach, G; Kayserili, H; Elcioglu, N; Ghaderi-Sohi, S; Goodarzi, P; Setayesh, H; van de Vorst, M; Steehouwer, M; Pfundt, R; Krabichler, B; Curry, C; MacKenzie, MG; Boycott, KM; Gilissen, C; Janecke, AR; Hoischen, A; Zenker, M
American journal of human genetics. 95(3):285-293
Academic Journal
Baynam, GS; Groft, S; van der Westhuizen, FH; Gassman, SD; du Plessis, K; Coles, EP; Selebatso, E; Selebatso, M; Gaobinelwe, B; Selebatso, T; Joel, D; Llera, VA; Vorster, BC; Wuebbels, B; Djoudalbaye, B; Austin, CP; Kumuthini, J; Forman, J; Kaufmann, P; Chipeta, J; Gavhed, D; Larsson, A; Stojiljkovic, M; Nordgren, A; Roldan, EJA; Taruscio, D; Wong-Rieger, D; Nowak, K; Bilkey, GA; Easteal, S; Bowdin, S; Reichardt, JKV; Beltran, S; Kosaki, K; van Karnebeek, CDM; Gong, MC; Zhang, SY; Mehrian-Shai, R; Adams, DR; Puri, RD; Zhang, F; Pachter, N; Muenke, M; Nellaker, C; Gahl, WA; Cederroth, H; Broley, S; Schoonen, M; Boycott, KM; Posada, M
Nature genetics. 52(1):21-26
Academic Journal
Brownstein, CA; Beggs, AH; Homer, N; Merriman, B; Yu, TW; Flannery, KC; DeChene, ET; Towne, MC; Savage, SK; Price, EN; Holm, IA; Luquette, LJ; Lyon, E; Majzoub, J; Neupert, P; McCallie, D; Szolovits, P; Willard, HF; Mendelsohn, NJ; Temme, R; Finkel, RS; Yum, SW; Medne, L; Sunyaev, SR; Adzhubey, I; Cassa, CA; de Bakker, PIW; Duzkale, H; Dworzynski, P; Fairbrother, W; Francioli, L; Funke, BH; Giovanni, MA; Handsaker, RE; Lage, K; Lebo, MS; Lek, M; Leshchiner, I; MacArthur, DG; McLaughlin, HM; Murray, MF; Pers, TH; Polak, PP; Raychaudhuri, S; Rehm, HL; Soemedi, R; Stitziel, NO; Vestecka, S; Supper, J; Gugenmus, C; Klocke, B; Hahn, A; Schubach, M; Menzel, M; Biskup, S; Freisinger, P; Deng, M; Braun, M; Perner, S; Smith, RJH; Andorf, JL; Huang, J; Ryckman, K; Sheffield, VC; Stone, EM; Bair, T; Black-Ziegelbein, EA; Braun, TA; Darbro, B; DeLuca, AP; Kolbe, DL; Scheetz, TE; Shearer, AE; Sompallae, R; Wang, K; Bassuk, AG; Edens, E; Mathews, K; Moore, SA; Shchelochkov, OA; Trapane, P; Bossler, A; Campbell, CA; Heusel, JW; Kwitek, A; Maga, T; Panzer, K; Wassink, T; Van Daele, D; Azaiez, H; Booth, K; Meyer, N; Segal, MM; Williams, MS; Tromp, G; White, P; Corsmeier, D; Fitzgerald-Butt, S; Herman, G; Lamb-Thrush, D; McBride, KL; Newsom, D; Pierson, CR; Rakowsky, AT; Maver, A; Lovrecic, L; Palandacic, A; Peterlin, B; Torkamani, A; Wedell, A; Huss, M; Alexeyenko, A; Lindvall, JM; Magnusson, M; Nilsson, D; Stranneheim, H; Taylan, F; Gilissen, C; Hoischen, A; van Bon, B; Yntema, H; Nelen, M; Zhang, WD; Sager, J; Zhang, L; Blair, K; Kural, D; Cariaso, M; Lennon, GG; Javed, A; Agrawal, S; Ng, PC; Sandhu, KS; Krishna, S; Veeramachaneni, V; Isakov, O; Halperin, E; Friedman, E; Shomron, N; Glusman, G; Roach, JC; Caballero, J; Cox, HC; Mauldin, D; Ament, SA; Rowen, L; Richards, DR; San Lucas, FA; Gonzalez-Garay, ML; Caskey, CT; Bai, Y; Huang, Y; Fang, F; Zhang, Y; Wang, ZY; Barrera, J; Garcia-Lobo, JM; Gonzalez-Lamuno, D; Llorca, J; Rodriguez, MC; Varela, I; Reese, MG; De la Vega, FM; Kiruluta, E; Cargill, M; Hart, RK; Sorenson, JM; Lyon, GJ; Stevenson, DA; Bray, BE; Moore, BM; Eilbeck, K; Yandell, M; Zhao, HY; Hou, L; Chen, XW; Yan, XT; Chen, MJ; Li, C; Yang, C; Gunel, M; Li, PN; Kong, Y; Alexander, AC; Albertyn, ZI; Boycott, KM; Bulman, DE; Gordon, PMK; Innes, AM; Knoppers, BM; Majewski, J; Marshall, CR; Parboosingh, JS; Sawyer, SL; Samuels, ME; Schwartzentruber, J; Kohane, IS; Margulies, DM
Genome biology. 15(3):R53
Electronic Resource
Lee, RG; Balasubramaniam, S; Stentenbach, M; Kralj, T; McCubbin, T; Padman, B; Smith, J; Riley, LG; Priyadarshi, A; Peng, L; Nuske, MR; Webster, R; Peacock, K; Roberts, P; Stark, Z; Lemire, G; Ito, YA; Boycott, KM; Geraghty, MT; Klinken, JB; Ferdinandusse, S; Zhou, Y; Walsh, R; Marcellin, E; Thorburn, DR; Rosciolli, T; Fletcher, J; Rackham, O; Vaz, FM; Reid, GE; Filipovska, A
Academic Journal
Degeling, K; Grazziotin Lago, L; Hayeems, RZ; Boycott, KM; Bernier, FP; Mendoza-Londono, R; Seeger, TA; Marshall, D
In Value in Health July 2022 25(7) Supplement:S344-S344
Electronic Resource
Gennarino, VA; Palmer, EE; McDonell, LM; Wang, L; Adamski, CJ; Koire, A; See, L; Chen, CA; Schaaf, CP; Rosenfeld, JA; Panzer, JA; Moog, U; Hao, S; Bye, A; Kirk, EP; Stankiewicz, P; Breman, AM; McBride, A; Kandula, T; Dubbs, HA; Macintosh, R; Cardamone, M; Zhu, Y; Ying, K; Dias, KR; Cho, MT; Henderson, LB; Baskin, B; Morris, P; Tao, J; Cowley, MJ; Dinger, ME; Roscioli, T; Caluseriu, O; Suchowersky, O; Sachdev, RK; Lichtarge, O; Tang, J; Boycott, KM; Holder, JL; Zoghbi, HY
Electronic Resource
Cheng, H; Dharmadhikari, AV; Varland, S; Ma, N; Domingo, D; Kleyner, R; Rope, AF; Yoon, M; Stray-Pedersen, A; Posey, JE; Crews, SR; Eldomery, MK; Akdemir, ZC; Lewis, AM; Sutton, VR; Rosenfeld, JA; Conboy, E; Agre, K; Xia, F; Walkiewicz, M; Longoni, M; High, FA; van Slegtenhorst, MA; Mancini, GMS; Finnila, CR; van Haeringen, A; den Hollander, N; Ruivenkamp, C; Naidu, S; Mahida, S; Palmer, EE; Murray, L; Lim, D; Jayakar, P; Parker, MJ; Giusto, S; Stracuzzi, E; Romano, C; Beighley, JS; Bernier, RA; Küry, S; Nizon, M; Corbett, MA; Shaw, M; Gardner, A; Barnett, C; Armstrong, R; Kassahn, KS; Van Dijck, A; Vandeweyer, G; Kleefstra, T; Schieving, J; Jongmans, MJ; de Vries, BBA; Pfundt, R; Kerr, B; Rojas, SK; Boycott, KM; Person, R; Willaert, R; Eichler, EE; Kooy, RF; Yang, Y; Wu, JC; Lupski, JR; Arnesen, T; Cooper, GM; Chung, WK; Gecz, J; Stessman, HAF; Meng, L; Lyon, GJ
Electronic Resource
Aref-Eshghi, E; Bend, EG; Hood, RL; Schenkel, LC; Carere, DA; Chakrabarti, R; Nagamani, SCS; Cheung, SW; Campeau, PM; Prasad, C; Siu, VM; Brady, L; Tarnopolsky, MA; Callen, DJ; Innes, AM; White, SM; Meschino, WS; Shuen, AY; Pare, G; Bulman, DE; Ainsworth, PJ; Lin, H; Rodenhiser, DI; Hennekam, RC; Boycott, KM; Schwartz, CE; Sadikovic, B
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