학술논문
'학술논문'
에서 검색결과 29건 | 목록
20~30
Academic Journal
Lehtokari, V.-L.; Kiiski, K.; Repo, P.; Marttila, M.; Wallgren-Pettersson, C.; Sandaradura, S.A.; Clarke, N.F.; Laporte, J.; Frey, J.A.; Winder, T.L.; Donner, K.; Saunders, C.; Barth, P.G.; den Dunnen, J.T.; Beggs, A.H.; North, K.N.; Laing, N.G.; Romero, N.B.; Pelin, K.
In: Human Mutation . (Human Mutation, 1 December 2014, 35(12):1418-1426)
Academic Journal
Yuen, M.; Sandaradura, S.A.; Quinlan, K.G.; Ilkovski, B.; Houweling, P.J.; Waddell, L.B.; North, K.N.; Clarke, N.F.; Dowling, J.J.; Davidson, A.E.; Telfer, W.R.; Kostyukova, A.S.; Moroz, N.; Lehtokari, V.-L.; Wallgren-Pettersson, C.; Ravenscroft, G.; Todd, E.J.; Laing, N.G.; Ceyhan-Birsoy, O.; Swanson, L.C.; Brownstein, C.A.; Gupta, V.A.; Beggs, A.H.; Gokhin, D.S.; Fowler, V.M.; Maluenda, J.; Nolent, F.; Melki, J.; Lek, M.; Thomas, B.P.; Daly, M.J.; MacArthur, D.G.; Gabriel, S.B.; Gupta, N.; Pappas, C.T.; Novak, S.M.; Gregorio, C.C.; D'Amico, A.; Bertini, E.; Malfatti, E.; Romero, N.B.; Medne, L.; Shannon, P.; Martin, N.; Chitayat, D.; Bick, D.P.; Flisberg, A.; Holmberg, E.; Van Den Bergh, P.; Lapunzina, P.; Sloboda, D.D.; Laquerrière, A.; Ottenheijm, C.A.C.; Bönnemann, C.G.; Pelin, K.; Hayashi, Y.K.; Nishino, I.
In: Journal of Clinical Investigation . (Journal of Clinical Investigation, 3 November 2014, 124(11):4693-4708)
Academic Journal
Goergen, S.K.; Fahey, M.; Alibrahim, E.; Dobrotwir, A.; Vasudevan, A.; Christie, J.; Fender, L.; Frawley, K.; Manikkam, S.A.; Pinner, J.R.; Sinnott, S.; Romaniello, R.; Sandaradura, S.A.; Taylor, J.; Righini, A.
In: American Journal of Neuroradiology . (American Journal of Neuroradiology, 1 August 2021, 42(8):1528-1534)
Academic Journal
Gupta, V.A.; Swanson, L.C.; Hsu, C.; Brownstein, C.A.; Yu, T.W.; Beggs, A.H.; Ravenscroft, G.; Todd, E.J.; Yau, K.S.; Laing, N.G.; Shaheen, R.; Hashem, A.; Alkuraya, F.S.; Shiina, M.; Ogata, K.; Clarke, N.F.; Sandaradura, S.A.; Darras, B.T.; Farrar, M.A.; Manton, N.D.; Muntoni, F.; Sewry, C.A.; North, K.N.; Nishino, I.; Hayashi, Y.K.; Thompson, E.M.; Allcock, R.J.N.; Davis, M.R.; Wallgren-Pettersson, C.; Matsumoto, N.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 5 December 2013, 93(6):1108-1117)
Academic Journal
Morales-Briceño, H.; Chang, F.C.F.; Wong, C.; Mallawaarachchi, A.; Wolfe, N.; Fung, V.S.C.; Pellegrino Da Silva, R.; Hakonarson, H.; Sandaradura, S.A.; Guo, Y.; Christodoulou, J.; Lagopoulos, J.; Grattan-Smith, P.
In: Neurology . (Neurology, 8 January 2019, 92(2):94-97)
Academic Journal
Schofield, D.; Shrestha, R.; Alam, K.; North, K.N.; Douglas, L.; Sandaradura, S.A.; Clarke, N.F.; Burns, J.; Cooper, S.T.; O'Grady, G.L.; MacArthur, D.G.; Davis, M.; Laing, N.G.
In: npj Genomic Medicine . (npj Genomic Medicine, 1 December 2017, 2(1))
Academic Journal
Yuen, M.; Sandaradura, S.A.; Dowling, J.J.; Kostyukova, A.S.; Moroz, N.; Quinlan, K.G.; Lehtokari, V.-L.; Ravenscroft, G.; Todd, E.J.; Ceyhan-Birsoy, O.; Gokhin, D.S.; Maluenda, J.; Lek, M.; Nolent, F.; Pappas, C.T.; Novak, S.M.; D'Amico, A.; Malfatti, E.; Thomas, B.P.; Gabriel, S.B.; Gupta, N.; Daly, M.J.; Ilkovski, B.; Houweling, P.J.; Davidson, A.E.; Swanson, L.C.; Brownstein, C.A.; Gupta, V.A.; Medne, L.; Shannon, P.; Martin, N.; Bick, D.P.; Flisberg, A.; Holmberg, E.; Van Den Bergh, P.; Lapunzina, P.; Waddell, L.B.; Sloboda, D.D.; Bertini, E.; Chitayat, D.; Telfer, W.R.; Laquerrière, A.; Gregorio, C.C.; Ottenheijm, C.A.C.; Bönnemann, C.G.; Pelin, K.; Beggs, A.H.; Hayashi, Y.K.; Romero, N.B.; Laing, N.G.; Nishino, I.; Wallgren-Pettersson, C.; Melki, J.; Fowler, V.M.; MacArthur, D.G.; North, K.N.; Clarke, N.F.
In: Journal of Clinical Investigation . (Journal of Clinical Investigation, 2 January 2015, 125(1):456-457)
Academic Journal
In: Oncotarget . (Oncotarget, 2015, 6(29):26548-26549)
Academic Journal
In: Current Opinion in Neurology . (Current Opinion in Neurology, October 2013, 26(5):519-526)
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[AR] Sandaradura, S.A.
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