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, Ravi; Tofts, Louise; Irving, Melita; Wilcox, William R; Bacino, Carlos A; Hoover-Fong, Julie; Font, Rosendo Ullot; Harmatz, Paul; Rutsch, Frank; Bober, Michael B; Polgreen, Lynda E; Ginebreda, Ignacio; Mohnike, Klaus; Charrow, Joel; Hoernschemeyer, Daniel; Ozono, Keiichi; Alanay, Yasemin; Arundel, Paul; Kotani, Yumiko; Yasui, Natsuo; White, Klane K; Saal, Howard M; Leiva-Gea, Antonio; Luna-González, Felipe; Mochizuki, Hiroshi; Basel, Donald; Porco, Dania M; Jayaram, Kala; Fisheleva, Elena; Huntsman-Labed, Alice; Day, Jonathan RS
Genetics in Medicine. 23(12)
Academic Journal
The Application of Clinical Genetics, Vol 2014, Iss default, Pp 117-125 (2014)
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
Burrage, Lindsay C; Reynolds, John J; Baratang, Nissan Vida; Phillips, Jennifer B; Wegner, Jeremy; McFarquhar, Ashley; Higgs, Martin R; Christiansen, Audrey E; Lanza, Denise G; Seavitt, John R; Jain, Mahim; Li, Xiaohui; Parry, David A; Raman, Vandana; Chitayat, David; Chinn, Ivan K; Bertuch, Alison A; Karaviti, Lefkothea; Schlesinger, Alan E; Earl, Dawn; Bamshad, Michael; Savarirayan, Ravi; Doddapaneni, Harsha; Muzny, Donna; Jhangiani, Shalini N; Eng, Christine M; Gibbs, Richard A; Bi, Weimin; Emrick, Lisa; Rosenfeld, Jill A; Postlethwait, John; Westerfield, Monte; Dickinson, Mary E; Beaudet, Arthur L; Ranza, Emmanuelle; Huber, Celine; Cormier-Daire, Valérie; Shen, Wei; Mao, Rong; Heaney, Jason D; Orange, Jordan S; Genomics, University of Washington Center for Mendelian; Network, Undiagnosed Diseases; Adams, David R; Aday, Aaron; Alejandro, Mercedes E; Allard, Patrick; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Baker, Eva; Balasubramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F; Beggs, Alan H; Behnam, Babak; Bellen, Hugo J; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bick, David P; Birch, Camille L; Bonner, Devon; Boone, Braden E; Bostwick, Bret L; Briere, Lauren C; Brokamp, Elly; Brown, Donna M; Brush, Matthew; Burke, Elizabeth A; Butte, Manish J; Chen, Shan; Clark, Gary D; Coakley, Terra R; Cogan, Joy D; Colley, Heather A; Cooper, Cynthia M; Cope, Heidi; Craigen, William J; D’Souza, Precilla; Davids, Mariska; Davidson, Jean M; Dayal, Jyoti G; Dell’Angelica, Esteban C; Dhar, Shweta U; Dipple, Katrina M; Donnell-Fink, Laurel A; Dorrani, Naghmeh; Dorset, Daniel C; Douine, Emilie D; Draper, David D; Dries, Annika M; Duncan, Laura; Eckstein, David J; Emrick, Lisa T; Enns, Gregory M; Eskin, Ascia; Esteves, Cecilia
American Journal of Human Genetics. 104(3)
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
Timothy C. R. Prickett; Eric A. Espiner; Melita Irving; Carlos Bacino; John A. Phillips; Ravi Savarirayan; Jonathan R. S. Day; Elena Fisheleva; Kevin Larimore; Ming Liang Chan; George S. Jeha
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
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
In: Nature Reviews Endocrinology . (Nature Reviews Endocrinology, August 2024, 20(8):443-444)
Academic Journal
Sillence David; Patricelli Maria G; Gardner RJ McKinlay; McGillivray George; Kerr Bronwyn; Kannu Peter; Hunter Warwick; Haan Eric; Alcausin Melanie; Aftimos Salim; Andreucci Elena; Thompson Elizabeth; Zacharin Margaret; Zankl Andreas; Lamandé Shireen R; Savarirayan Ravi
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 37 (2011)
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[Author] Savarirayan R
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