학술논문
'학술논문'
에서 검색결과 296건 | 목록
160~170
Academic Journal
Mirzaa, G.M.; Dobyns, W.B.; Olds, C.; Collins, S.; Novotny, E.J.; Hevner, R.F.; Campbell, C.D.; Solovieff, N.; Goold, C.P.; Menon, S.; Biag, J.D.; Leary, R.J.; Mahan, S.; Liu, S.; Sellers, W.R.; Morrissey, M.P.; Murphy, L.O.; Winckler, W.; Jansen, L.A.; Gunter, S.A.; Timms, A.E.; Conti, V.; Guerrini, R.; Boyle, E.A.; Ishak, G.; Poliachik, S.L.; Girisha, K.M.; Yeung, K.-S.; Chung, B.H.Y.; Rahikkala, E.; McDaniel, S.S.; Macmurdo, C.F.; Bernstein, J.A.; Martin, B.; Shendure, J.; Weaver, M.; Dorschner, M.O.; Jhangiani, S.; Muzny, D.M.; Gibbs, R.A.; Lupski, J.R.; Boerwinkle, E.; Saneto, R.P.; Wilson, C.J.; Ojemann, J.G.
In: JAMA Neurology . (JAMA Neurology, July 2016, 73(7):836-845)
Academic Journal
Baron, R.; Superti-Furga, A.; Kiper, P.O.S.; Bonafé, L.; Campos-Xavier, B.; Dikoglu, E.; Unger, S.; Harshman, K.; Rivolta, C.; Stevenson, B.J.; Brommage, R.; Boduroglu, K.; Saito, H.; Gori, F.; Hesse, E.; Yamana, K.; Kiviranta, R.; Gossiel, F.; Solban, N.; Liu, J.; Eastell, R.; Nishimura, G.; Takita, H.; Girisha, K.M.
In: New England Journal of Medicine . (New England Journal of Medicine, 30 June 2016, 374(26):2553-2562)
Academic Journal
Toubiana, J.; Blanche, S.; Picard, C.; Casanova, J.-L.; Puel, A.; Okada, S.; Kobayashi, M.; Hiller, J.; Traidl-Hoffmann, C.; Oleastro, M.; Gomez, M.L.; Becerra, J.C.A.; Ouachée-Chardin, M.; Fouyssac, F.; Girisha, K.M.; Etzioni, A.; Van Montfrans, J.; Camcioglu, Y.; Kerns, L.A.; Belohradsky, B.; Renner, E.D.; Bousfiha, A.; Rodriguez-Gallego, C.; Meyts, I.; Kisand, K.; Reichenbach, J.; Rosenzweig, S.; Holland, S.; Grimbacher, B.; Van De Veerdonk, F.L.; Marodi, L.; Morio, T.; Lilic, D.; Milner, J.D.
In: Blood . (Blood, 23 June 2016, 127(25):3154-3164)
Academic Journal
Mirzaa, G.; Glass, I.; Stephan, M.; Dobyns, W.B.; Olds, C.; Collins, S.; Park, K.; Timms, A.E.; Conti, V.; Guerrini, R.; Boyle, E.A.; Girisha, K.M.; Martin, B.; Kircher, M.; Shendure, J.; Juusola, J.; Carter, M.; Krägeloh-Mann, I.; Chitayat, D.; Martin, N.; Parikh, A.S.; Bradshaw, R.; Torti, E.; Braddock, S.; Burke, L.; Ghedia, S.; Stewart, F.; Prasad, C.; Napier, M.; Saitta, S.; Straussberg, R.; Gabbett, M.; O’Connor, B.C.; Keegan, C.E.; Yin, L.J.; Meeng Lai, A.H.; McKinnon, M.; Addor, M.-C.; Boccuto, L.; Schwartz, C.E.; Lanoel, A.; Conway, R.L.; Devriendt, K.; Tatton-Brown, K.; Pierpont, M.E.; Painter, M.; Worgan, L.; Reggin, J.; Hennekam, R.; Tsuchiya, K.; Pritchard, C.C.; Aracena, M.; Gripp, K.W.; Cordisco, M.; van Esch, H.; Garavelli, L.; Curry, C.; Goriely, A.; Kayserilli, H.; Graham, J.
In: JCI Insight . (JCI Insight, 16 June 2016, 1(9))
Academic Journal
Cho, S.Y.; Jin, D.-K.; Bae, J.-S.; Kim, N.K.D.; Park, W.-Y.; Forzano, F.; Faravelli, F.; Girisha, K.M.; Baldo, C.; Cho, T.-J.; Kim, D.; Lee, K.Y.; Ikegawa, S.; Shim, J.S.; Ko, A.-R.; Miyake, N.; Nishimura, G.; Superti-Furga, A.; Spranger, J.; Kim, O.-H.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 2 June 2016, 98(6):1243-1248)
Academic Journal
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, 1 June 2016, 170(6):1639-1641)
Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2
Academic Journal
In: BMJ Case Reports . (BMJ Case Reports, 13 May 2016, 2016)
Academic Journal
In: Congenital Anomalies . (Congenital Anomalies, 1 May 2016, 56(3):119-126)
Academic Journal
Girisha, K.M.; Bidchol, A.M.; Gupta, A.; Graul-Neumann, L.; Hehr, U.; Lessel, D.; Wickert, J.; Kutsche, K.; Nader, S.; Shah, H.
In: BMC Medical Genetics . (BMC Medical Genetics, April 06, 2016, 17(1))
Academic Journal
Bhavani, G.S.; Shukla, A.; Girisha, K.M.; Shah, H.; Gupta, N.; Kabra, M.; Gowrishankar, K.; Rao, A.P.; Agarwal, M.; Phadke, S.R.; Ranganath, P.; Dalal, A.; Ekbote, A.V.; Kamath, A.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, 1 February 2016, 170(2):410-417)
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[AR] Girisha, K.M.
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