학술논문
'학술논문'
에서 검색결과 76건 | 목록
1~10
Academic Journal
Regier, D.A.; Loewen, R.; Chan, B.; Ehman, M.; Pollard, S.; Weymann, D.; Friedman, J.M.; Elliott, A.M.; Stockler-Ipsiroglu, S.; van Karnebeek, C.; Race, S.; Dragojlovic, N.; Lynd, L.D.
In: Genetics in Medicine . (Genetics in Medicine, April 2024, 26(4))
Academic Journal
Friedman, J.M.; Carleton, B.; Bombard, Y.; Issa, A.M.; Knoppers, B.; Plon, S.E.; Rahimzadeh, V.; Relling, M.V.; Williams, M.S.; van Karnebeek, C.; Vears, D.; Cornel, M.C.
In: Genetics in Medicine . (Genetics in Medicine, February 2024, 26(2))
Academic Journal
Hartley, T.; Gillespie, M.K.; Price, E.M.; White-Brown, A.; MacKay, L.; Macdonald, S.K.; Wall, E.; Soubry, É.; Ediae, G.U.; Rojas, S.; Dyment, D.; Lemire, G.; Armour, C.M.; Boswell-Patterson, C.; Boycott, K.M.; Graham, I.D.; Sawyer, S.L.; Lazier, J.; Bhola, P.T.; Carter, M.; Richer, J.; Warman-Chardon, J.; Graham, G.; Rusnak, A.; Potter, B.; Marshall, D.; Marwaha, A.; Acker, M.; Fooks, K.; Amburgey, K.; Mendoza-Londono, R.; Dowling, J.J.; Costain, G.; Dupuis, L.; Kannu, P.; Cytrynbaum, C.; Aul, R.B.; Yoon, G.; Gonorazky, H.; Deshwar, A.R.; Weksberg, R.; Al-Qattan, S.; Inbar-Feigenberg, M.; Cohn, R.; Szuto, A.; Inglese, C.; Chad, L.; Hayeems, R.; Assamad, D.; Cordeiro, D.; McNiven, V.; Mercimek-Andrews, S.; Shuen, A.Y.; Chisholm, C.; Poirier, M.; Brady, L.; Tarnopolsky, M.; Hui, A.Y.; Badalato, L.; Guerin, A.; Campbell, M.; Andrews, J.D.; Chowdhury, A.; Balci, T.B.; Siu, V.M.; Karp, N.; Boycott, K.; Brudno, M.; Bernier, F.; van Karnebeek, C.; Kernohan, K.; Innes, M.; Lamont, R.; Parboosingh, J.; Marshall, C.; Mendoza, R.; Dowling, J.; Knoppers, B.; Lehman, A.; Mostafavi, S.
In: Genetics in Medicine . (Genetics in Medicine, February 2024, 26(2))
Academic Journal
Marshall, A.E.; Dyment, D.A.; Boycott, K.M.; Dyment, D.A.; Kernohan, K.D.; Liang, Y.; Couse, M.; McConkey, H.; Sadikovic, B.; Brudno, M.; Marshall, C.; Mendoza, R.; Dowling, J.; Hayeems, R.; Bernier, F.; Innes, M.; Lamont, R.; Parboosingh, J.; Marshall, D.; Lehman, A.; van Karnebeek, C.; Mostafavi, S.; Knoppers, B.
In: Journal of Human Genetics . (Journal of Human Genetics, February 2024, 69(2):101-105)
Academic Journal
Stolwijk, N.N.; Bouwhuis, N.; Hollak, C.E.M.; Langeveld, M.; Bosch, A.M.; Häberle, J.; van Karnebeek, C.; van Spronsen, F.J.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, November 2023, 46(6):1017-1028)
Academic Journal
Mohajeri, A.; Yang, G.X.; Salman, A.; Mostafavi, S.; Armstrong, L.; Lehman, A.; Vaseghi-Shanjani, M.; Lu, H.; Sharma, M.; Lin, S.; Waqas, M.; Del Bel, K.L.; Biggs, C.M.; Hildebrand, K.J.; Van Karnebeek, C.; Halparin, J.; Yang, C.L.; Turvey, S.E.; Rosenfeld, J.A.; Sababi Azamian, M.; Worley, K.C.; Lalani, S.R.; Scott, D.A.; Kozak, F.K.; Rahmanian, R.; Henkelman, E.; Nicholas, S.K.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 November 2023, 60(11):1092-1104)
Academic Journal
Edridge, A.; Boele van Hensbroek, M.; van Woensel, J.B.M.; Deijs, M.; Koekkoek, S.; de Wever, B.; van der Ende, A.; de Jong, M.D.; van der Hoek, L.; Namazzi, R.; Idro, R.; Tebulo, A.; Seydel, K.; Taylor, T.; Mallewa, M.; Mfizi, A.; Umiwana, J.; Kabayiza, J.-C.; Jans, J.; Verhoeven-Duif, N.; Titulaer, M.; van Karnebeek, C.; Asiimwe-Kateera, B.
In: Journal of Pediatrics . (Journal of Pediatrics, July 2023, 258)
Academic Journal
Coughlin, C.R.; Tseng, L.A.; Van Karnebeek, C.; Bok, L.A.; Hartmann, H.; Footitt, E.; Striano, P.; Tabarki, B.M.; Lunsing, R.J.; Stockler-Ipsiroglu, S.; Gordon, S.; Van Hove, J.L.K.; Abdenur, J.E.; Boyer, M.; Longo, N.; Andrews, A.; Janssen, M.C.H.; Van Wegberg, A.; Prasad, C.; Prasad, A.N.; Lamb, M.M.; Wijburg, F.A.; Gospe Jr, S.M.
In: Neurology . (Neurology, 6 December 2022, 99(23):E2627-E2636)
Academic Journal
't Hoen, P.; Benkemoun, L.; Prigione, A.; Boussaad, I.; de Kort, M.; Geille, A.; Lochmüller, H.; Voermans, N.; van Engelen, B.; van Karnebeek, C.
In Neuromuscular Disorders October 2023 33 Supplement 1:S74-S74
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))
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제한된 항목
[AR] Van Karnebeek, C.
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