학술논문
'학술논문'
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1~10
Academic Journal
Unger, S; Ferreira, CR; Mortier, GR; Ali, H; Bertola, DR; Calder, A; Cohn, DH; Cormier-Daire, V; Girisha, KM; Hall, C; Krakow, D; Makitie, O; Mundlos, S; Nishimura, G; Robertson, SP; Savarirayan, R; Sillence, D; Simon, M; Sutton, VR; Warman, ML; Superti-Furga, A
American journal of medical genetics. Part A. 191(5):1164-1209
Academic Journal
Savarirayan, R; Ireland, P; Irving, M; Thompson, D; Alves, I; Baratela, WAR; Betts, J; Bober, MB; Boero, S; Briddell, J; Campbell, J; Campeau, PM; Carl-Innig, P; Cheung, MS; Cobourne, M; Cormier-Daire, V; Deladure-Molla, M; del Pino, M; Elphick, H; Fano, V; Fauroux, B; Gibbins, J; Groves, ML; Hagenas, L; Hannon, T; Hoover-Fong, J; Kaisermann, M; Leiva-Gea, A; Llerena, J; Mackenzie, W; Martin, K; Mazzoleni, F; McDonnell, S; Meazzini, MC; Milerad, J; Mohnike, K; Mortier, GR; Offiah, A; Ozono, K; Phillips, JA; Powell, S; Prasad, Y; Raggio, C; Rosselli, P; Rossiter, J; Selicorni, A; Sessa, M; Theroux, M; Thomas, M; Trespedi, L; Tunkel, D; Wallis, C; Wright, M; Yasui, N; Fredwall, SO
Nature reviews. Endocrinology. 18(3):173-189
Academic Journal
Hoover-Fong, J; Cheung, MS; Fano, V; Hagenas, L; Hecht, JT; Ireland, P; Irving, M; Mohnike, K; Offiah, AC; Okenfuss, E; Ozono, K; Raggio, C; Tofts, L; Kelly, D; Shediac, R; Pan, W; Savarirayan, R
Bone. 146:115872
Academic Journal
Wincent, J; Bruno, DL; van Bon, BW; Bremer, A; Stewart, H; Bongers, EM; Ockeloen, CW; Willemsen, MH; Keays, DD; Baird, G; Newbury, DF; Kleefstra, T; Marcelis, C; Kini, U; Stark, Z; Savarirayan, R; Sheffield, LJ; Zuffardi, O; Slater, HR; de Vries, BB; Knight, SJ; Anderlid, BM; Schoumans, J
Molecular syndromology. 1(5):246-254
Academic Journal
Schueler, Markus; Halbritter, Jan; Phelps, Ian G; Braun, Daniela A; Otto, Edgar A; Porath, Jonathan D; Gee, Heon Yung; Shendure, Jay; OʼRoak, Brian J; Lawson, Jennifer A; Nabhan, Marwa M; Soliman, Neveen A; Doherty, Dan; Hildebrandt, Friedhelm; Yalcinkaya, F; Bakkaloglu, S; Ozaltin, F; Comak, E; Krull, F; Schmitz-Hübner; Rupprecht, H; Muller, D; Dahlem, P; Hoppe, B; Wolfe, M; Weber, M; Vester, U; Bonzel, K; Nikolay, J; Hansmann, I; Wiefel, M; Orth, U; Pfleiderer, H; Pape, L; Morlot; Ehrich, J; Tonshoff, B; Schindera, F; Hoefele, J; Griebel, M; Broeking, E; Konrad, M; Radke, M; Brandis, M; Kirchhoff, A; Feygina, V; Springate, J; Ahmadzdeh, S; Gipson, D; Becker, A; Dharnidharka, V; Mark, P; Srivaths, P; Wilson, A; Kamil, E; Why, S; Pan, C; Kashtan, C; D’Alessandri, C; Trachtman, H; Kaplan, B; Joseph, M; Weiss, R; Thomas, S; Newberry, L; Koyun, M; Fathy, H; RybiSzuminska, A; Szczepanska, M; Dolezel, Z; Malina, M; Seeman, T; Honzik, T; Ferreira, P; Ferguson, M; Harvey, E; Chong, K; Sandford, R; Josifova, D; Bockenhauer, D; Sayer, J; Johnson, C; Senguttuvan, P; Pela, I; Knops, N; Levart, T; Neuhaus, T; Ayuso, C; Kindi, A; Knoers, N; Antignac, C; Radauer, W; Genzani, C; Berg, U; Klingenberg, C; Jones, C; Savarirayan, R; Kausman, J
Journal of Medical Genetics. Mar 01, 2016 53(3):208-214
Academic Journal
Developmental Medicine & Child Neurology. Jun 01, 2012 54 Suppl 5:71-72
Academic Journal
Stark, Z; Gillessen-Kaesbach, G; Ryan, M M; Cirstea, I C; Gremer, L; Ahmadian, M R; Savarirayan, R; Zenker, M
Clinical Genetics. Jun 01, 2012 81(6):590-594
Academic Journal
Tan, T Y; Aftimos, S; Worgan, L; Susman, R; Wilson, M; Ghedia, S; Kirk, E P; Love, D; Ronan, A; Darmanian, A; Slavotinek, A; Hogue, J; Moeschler, J B; Ozmore, J; Widmer, R; Savarirayan, R; Peters, G
Journal of Medical Genetics. Jul 01, 2009 46(7):480-489
Academic Journal
Bruno, D L; Ganesamoorthy, D; Schoumans, J; Bankier, A; Coman, D; Delatycki, M; Gardner, R J M; Hunter, M; James, P A; Kannu, P; McGillivray, G; Pachter, N; Peters, H; Rieubland, C; Savarirayan, R; Scheffer, I E; Sheffield, L; Tan, T; White, S M; Yeung, A; Bowman, Z; Ngo, C; Choy, K W; Cacheux, V; Wong, L; Amor, D J; Slater, H R
Journal of Medical Genetics. Feb 01, 2009 46(2):123-131
Academic Journal
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