학술논문
'학술논문'
에서 검색결과 75건 | 목록
40~50
Academic Journal
In: Advances in Therapy . (Advances in Therapy, September 2022, 39(9):3871-3880)
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
Di Donato, N.; Rump, A.; Schrock, E.; Mirzaa, G.M.; Dobyns, W.B.; Alcantara, D.; Oliver, A.; O'Driscoll, M.
In: Human Mutation . (Human Mutation, 1 March 2016, 37(3):242-245)
Academic Journal
Huang, L.; Vanstone, M.R.; Hartley, T.; Osmond, M.; Barrowman, N.; Richer, J.; Zou, R.; Bulman, D.E.; Boycott, K.M.; Lines, M.A.; Allanson, J.; Smith, A.C.; Baker, L.; Gripp, K.W.; Dabir, T.A.; Dipple, K.M.; Dobyns, W.B.; Mirzaa, G.M.; Estrella, J.; Faghfoury, H.; Morel, C.F.; Silver, J.; Favaro, F.P.; Guion-Almeida, M.-L.; Goel, H.; Gregersen, P.A.; Lildballe, D.L.; Grix, A.; Harr, M.H.; Zackai, E.H.; Hudson, C.; Johnson, J.; Hunter, A.G.W.; Joss, S.K.; Kimball, A.; Kline, A.D.; Kini, U.; Lauzon, J.; López-González, V.; Martinezmoles, J.; Meldrum, C.; Morton, J.E.V.; Pyle, L.C.; Quintero-Rivera, F.; Scheuerle, A.E.; Schönewolf-Greulich, B.; Shears, D.J.; Temple, I.K.; Van De Kamp, J.M.; Van Dijk, F.S.; Vandersteen, A.M.; White, S.M.
In: Human Mutation . (Human Mutation, February 2016, 37(2):148-154)
Academic Journal
Mcmahon, K.Q.; Paciorkowski, A.R.; Papandreou, A.; Kurian, M.A.; Scott, R.H.; Ma, M.; Barry, B.J.; Mirzaa, G.M.; Dobyns, W.B.; Trump, N.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, 1 December 2015, 167(12):3096-3102)
Academic Journal
Mirzaa, G.M.; Dobyns, W.B.; Martin, B.; Shendure, J.; Ahmed, S.; Olds, C.; Collins, S.; Timms, A.E.; Conti, V.; Parrini, E.; Mei, D.; Tattini, L.; Guerrini, R.; Smyser, C.D.; Carter, M.; Barnett, S.; Harris, C.; Hufnagel, R.B.; Goldstein, A.; Narumi-Kishimoto, Y.; Johnston, K.; Deleuze, J.-F.; Nitschké, P.; Friend, K.; Goetsch, A.; Boyle, E.A.; Slavotinek, A.; Blair, E.; Barnett, C.; Chelly, J.
In: The Lancet Neurology . (The Lancet Neurology, December 2015, 14(12):1182-1195)
Academic Journal
Douzgou, S.; Rawson, M.; Clayton-Smith, J.; Baselga, E.; Danielpour, M.; Kashanian, A.; Faivre, L.; Vabres, P.; Keppler-Noreuil, K.M.; Kuentz, P.; Mancini, G.M.S.; Maniere, M.-C.; Martinez-Glez, V.; Parker, V.E.; Semple, R.K.; Srivastava, S.; De Wit, M.-C.Y.; Graham, J.M.; Mirzaa, G.M.; Biesecker, L.G.
In: Clinical Genetics . (Clinical Genetics, January 2022, 101(1):32-47)
Academic Journal
Jansen, L.A.; Gunter, S.A.; Mirzaa, G.M.; Roden, W.H.; Christian, S.L.; Collins, S.; Adams, C.; Rivière, J.-B.; St-Onge, J.; Hevner, R.F.; Dobyns, W.B.; Ishak, G.E.; O'Roak, B.J.; Hiatt, J.B.; Shendure, J.; Ojemann, J.G.
In: Brain . (Brain, 1 June 2015, 138(6):1613-1628)
Academic Journal
In: Pediatrics . (Pediatrics, 1 March 2015, 135(3):e736-e739)
Academic Journal
Mcmahon, K.Q.; Paciorkowski, A.R.; Papandreou, A.; Kurian, M.A.; Scott, R.H.; Ma, M.; Barry, B.J.; Mirzaa, G.M.; Dobyns, W.B.; Trump, N.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, In Press, 2015)
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[AR] Mirzaa, G.M.
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