학술논문
'학술논문'
에서 검색결과 76건 | 목록
10~20
Academic Journal
Elliott, A.M.; Adam, S.; du Souich, C.; Lehman, A.; Alderman, E.; Armstrong, L.; Aubertin, G.; Blood, K.; Boerkoel, C.; Chijiwa, C.; Clarke, L.; Couse, M.; Creighton, S.; Watts-Dickens, A.; Gibson, W.T.; Gill, H.; Hamilton, S.; Heran, H.; Hulait, G.K.; Koehn, D.; Lee, H.K.; Lewis, S.; Lopez, E.; Louie, K.; Niederhoffer, K.; Meagher, K.; Patel, M.S.; Rupps, R.; Seath, K.; Steinraths, M.; Tang, K.; van Allen, M.; Wasserman, W.; Friedman, J.M.; Boelman, C.; Tarailo-Graovac, M.; Horvath, G.; Peng, J.J.; Richmond, P.; Salvarinova, R.; Selby, K.; Stockler, S.; Mwenifumbo, J.; Nelson, T.N.; Bretherick, K.; Brown, L.; Huang, L.; Matthews, A.; Tyson, C.; van Karnebeek, C.; Race, S.
In: Human Genetics and Genomics Advances . (Human Genetics and Genomics Advances, 14 July 2022, 3(3))
Academic Journal
Chow, A.J.; Tingley, K.; Al-Baldawi, Z.; Brehaut, J.; Graham, I.D.; Jolly, A.; Khangura, S.; Taljaard, M.; Wilson, K.; Potter, B.K.; Iverson, R.; Lamoureux, M.; Chakraborty, P.; Major, N.; Teitelbaum, M.; Jordan, I.; Pallone, N.; Smith, M.; Grimshaw, J.M.; Nicholls, S.G.; Chan, A.; Jain-Ghai, S.; Siriwardena, K.; Cohen, E.; Schulze, A.; Hayeems, R.Z.; Dyack, S.; Goobie, S.; Gillis, L.J.; Greenberg, C.R.; MacKenzie, J.J.; Pender, A.; Potter, M.; Mitchell, J.J.; Prasad, C.; Speechley, K.; Prosser, L.A.; Sparkes, R.; Stockler, S.; Trakadis, Y.; Van Karnebeek, C.; Walia, J.S.; Wilson, B.J.
In: BMJ Open . (BMJ Open, 22 February 2022, 12(2))
Academic Journal
Van De Wal, M.A.E.; Van Karnebeek, C.; Koopman, W.J.H.; Adjobo-Hermans, M.J.W.; Keijer, J.; Grefte, S.; Van Schothorst, E.M.; Schirris, T.J.J.; Homberg, J.R.; Wieckowski, M.R.; Quintana, A.
In: Brain . (Brain, 1 January 2022, 145(1):45-63)
Academic Journal
Osmond, M.; Hartley, T.; Dyment, D.A.; Kernohan, K.D.; Boycott, K.M.; Brudno, M.; Buske, O.J.; Innes, A.M.; Boycott, K.; Bernier, F.; van Karnebeek, C.; Dyment, D.; Kernohan, K.; Lamont, R.; Parboosingh, J.; Marshall, D.; Marshall, C.; Mendoza, R.; Dowling, J.; Hayeems, R.; Knoppers, B.; Lehman, A.; Mostafavi, S.
In: Genetics in Medicine . (Genetics in Medicine, 01 January 2022, 24(1):100-108)
Academic Journal
Chow, A.J.; Saad, A.; Al-Baldawi, Z.; Iverson, R.; Brehaut, J.; Khangura, S.; Taljaard, M.; Potter, B.K.; Skidmore, B.; Jordan, I.; Pallone, N.; Smith, M.; Chakraborty, P.; Moazin, Z.; Wilson, K.; Hutton, B.; Nicholls, S.G.; Cohen, E.; Dyack, S.; Goobie, S.; Gillis, J.; Greenberg, C.R.; Hayeems, R.; Inbar-Feigenberg, M.; Jain-Ghai, S.; Siriwardena, K.; MacKenzie, J.J.; Mitchell, J.J.; Trakadis, Y.; Pender, A.; Prasad, C.; Schulze, A.; Sparkes, R.N.; Speechley, K.N.; Stockler, S.; Teitelbaum, M.; Van Karnebeek, C.; Walia, J.S.
In: Health Expectations . (Health Expectations, February 2024, 27(1))
Academic Journal
Rajan-Babu, I.-S.; Chiu, R.; Li, C.; Birol, I.; Dolzhenko, E.; Eberle, M.A.; Adam, S.; Souich, C.D.; Elliott, A.; Lehman, A.; Mwenifumbo, J.; Nelson, T.; van Karnebeek, C.; Friedman, J.; Birch, P.; Couse, M.; Guimond, C.; Mwenifumbo, J.; Peng, J.J.; Mohajeri, A.
In: Genome Medicine . (Genome Medicine, 01 December 2021, 13(1))
Academic Journal
Whalen, S.; Shaw, M.; Carroll, R.; Gecz, J.; Mignot, C.; Héron, D.; Bastaraud, S.C.; Walti, C.C.; Liebelt, J.; Elmslie, F.; Yap, P.; Hurst, J.; Forsythe, E.; Kirmse, B.; Ozmore, J.; Spinelli, A.M.; Calabrese, O.; de Villemeur, T.B.; Tabet, A.C.; Levy, J.; Guet, A.; Kossorotoff, M.; Kamien, B.; Morton, J.; McCabe, A.; Brischoux-Boucher, E.; Raas-Rothschild, A.; Pini, A.; Hartley, J.N.; Frosk, P.; Slavotinek, A.; Truxal, K.; Jennifer, C.; Dheedene, A.; Cui, H.; Kumar, V.; Thomson, G.; Riccardi, F.; Villard, L.; Boycott, K.; Brudno, M.; Marshall, C.; Mendoza, R.; Dowling, J.; Hayeems, R.; Bernier, F.; Innes, M.; Lamont, R.; Parboosingh, J.; Marshall, D.; van Karnebeek, C.; Lehman, A.; Mostafavi, S.; Dyment, D.; Kernohan, K.; Knoppers, B.
In: European Journal of Human Genetics . (European Journal of Human Genetics, September 2021, 29(9):1405-1417)
Academic Journal
Cook, C.B.; Siemens, A.; Adam, S.; du Souich, C.; Lehman, A.; Friedman, J.; Elliott, A.M.; Dragojlovic, N.; Lynd, L.D.; Nelson, T.N.; van Karnebeek, C.
In: European Journal of Medical Genetics . (European Journal of Medical Genetics, July 2021, 64(7))
Academic Journal
In: Molecular Genetics and Metabolism Reports . (Molecular Genetics and Metabolism Reports, June 2021, 27)
Academic Journal
Roston, A.; Gill, H.; McKinnon, M.; Mwenifumbo, J.; Gibson, W.T.; Evans, D.; Farrer, M.; Isidor, B.; Cogné, B.; Van Karnebeek, C.; An, J.; Jones, S.J.M.; Demos, M.; Connolly, M.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 March 2021, 58(3):196-204)
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[AR] Van Karnebeek, C.
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