학술논문
'학술논문'
에서 검색결과 281건 | 목록
1~10
Academic Journal
Luyckx, I.; Boeckx, N.; Van Schil, K.; Van Laer, L.; Loeys, B.; Walton, I.S.; Pang, C.; Wilkie, A.O.M.; De Praeter, M.; Lord, H.; Watson, C.M.; Bonthron, D.T.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 2024)
Academic Journal
Pagnamenta, A.T.; Camps, C.; Giacopuzzi, E.; Hashim, M.; Kaisaki, P.J.; Yu, J.; Ferla, M.; Lange, L.; Kesim, Y.; Ragoussis, V.; Vavoulis, D.V.; Bull, K.R.; Knight, S.J.L.; Kvikstad, E.M.; Pentony, M.M.; Ramesh, A.; Popitsch, N.; Taylor, J.C.; Taylor, J.M.; Calpena, E.; Dreau, H.; Blair, E.; Lines, K.E.; Ormondroyd, E.; Salminen, O.; Uhlig, H.H.; Watkins, H.; Kini, U.; Wilkie, A.O.M.; Baños-Piñero, B.; Dacal, B.D.; Lester, T.; Smith, C.; Hashimoto, A.; Sanders, E.; Schwessinger, R.; Hughes, J.R.; Lunter, G.; Babbs, C.; Beeson, D.; Dong, Y.; McGowan, S.J.; Mlcochova, H.; Riva, S.G.; Roberts, I.; Scott, C.; Twigg, S.R.F.; Schuh, A.H.; Allroggen, H.; Ansorge, O.; Bennett, D.L.; Németh, A.H.; Palace, J.; Sen, A.; Wang, J.; Banka, S.; Ben-Ami, T.; Bento, C.; Cilliers, D.; Brasch-Andersen, C.; Ousager, L.B.; Pugh, C.; Cario, H.; Conti, V.; Guerrini, R.; Mei, D.; Davies, E.G.; Kreins, A.Y.; Dhalla, F.; Dunford, J.E.; Javaid, K.; Harris, A.L.; Hartley, J.; Kelly, D.; Hollander, G.; Kane, M.; Kelly, D.; Langman, C.B.; Stevenson, M.; Thakker, R.V.; Lord, S.R.; Lu, X.; Zak, J.; Mansour, S.; Manzur, A.; Maroofian, R.; Marsden, B.; Mason, J.; Murakami, Y.; Okoli, S.; Patel, S.Y.; Rad, A.; Vona, B.; Roy, N.; Schilling, K.D.; van Wijk, R.; Wall, S.
In: Genome Medicine . (Genome Medicine, December 2023, 15(1))
Academic Journal
Moore, A.R.; Yu, J.; Taylor, J.C.; Pagnamenta, A.T.; Pei, Y.; Wilkie, A.O.M.; Cheng, E.W.Y.; Taylor Tavares, A.L.; Walker, W.T.; Thomas, N.S.; Kamath, A.; Ibitoye, R.; Josifova, D.; Wilsdon, A.; Ross, A.; Calder, A.D.; Offiah, A.C.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 December 2023, 60(12):1235-1244)
Academic Journal
Bernkopf, M.; Abdullah, U.B.; Bush, S.J.; Wood, K.A.; Ghaffari, S.; Koelling, N.; Maher, G.J.; Wilkie, A.O.M.; Goriely, A.; Blair, E.M.; Kini, U.; Giannoulatou, E.; Thibaut, L.M.; Williams, J.; Clouston, P.; Kelly, F.B.; Bloss, A.; Németh, A.H.; Saunders, K.; Shears, D.J.; Stewart, H.; Burkitt-Wright, E.; Canham, N.; Deng, A.T.; Holder, M.; Ramachandrappa, S.; Dixit, A.; Eason, J.; Leitch, H.G.; Suri, M.; Elmslie, F.; Homfray, T.; Gardham, A.; Hay, E.; Hurst, J.A.; Jones, W.D.; Kumar, A.; Lees, M.M.; Johnson, D.; Stewart, A.; Kivuva, E.; Morton, J.E.V.; Side, L.; Splitt, M.; Davies, R.W.
In: Nature Communications . (Nature Communications, December 2023, 14(1))
Academic Journal
Tooze, R.S.; Miller, K.A.; Calpena, E.; Phipps, J.M.; Twigg, S.R.F.; Wilkie, A.O.M.; Swagemakers, S.M.A.; McGowan, S.J.; Boute, O.; Vanlerberghe, C.; Collet, C.; Johnson, D.; Wall, S.A.; Laffargue, F.; de Leeuw, N.; Ockeloen, C.W.; Morton, J.V.; Noons, P.; Tan, T.Y.; Timberlake, A.T.; Weber, A.; Wilson, L.C.; Zackai, E.H.; Mathijssen, I.M.J.
In: Genetics in Medicine . (Genetics in Medicine, September 2023, 25(9))
Academic Journal
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 July 2023, 60(7):712-716)
Academic Journal
Vogiatzi, A.; Makris, K.; Argyrou, D.S.; Gkikas, A.; Kokkori, M.; Archontidi, S.; Mavrothalassitis, G.; Keklikoglou, K.; Arvanitidis, C.; Zacharopoulos, A.; Sotiropoulou, V.; Zacharakis, G.; Parthenios, N.; Parthenios, J.; Richardson, M.S.W.; Robertson, J.; Fenwick, A.L.; Twigg, S.R.F.; Wilkie, A.O.M.
In: International Journal of Molecular Sciences . (International Journal of Molecular Sciences, May 2023, 24(9))
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels
Academic Journal
In: Genes . (Genes, March 2023, 14(3))
Academic Journal
Lippincott, M.F.; Xu, W.; Farley, G.J.; Sabbagh, R.; Stamou, M.; Plummer, L.; Salnikov, K.; Balasubramanian, R.; Seminara, S.B.; Smith, A.A.; Davis, E.E.; Shennib, O.; Miao, X.; Lamarche-Vane, N.; Lafont, A.; Delaney, A.; Georgopoulos, N.A.; Mericq, V.; Quinton, R.; Mau-Them, F.T.; Nambot, S.; Hamad, A.; Brittain, H.; Tooze, R.S.; Calpena, E.; Wilkie, A.O.M.; Willems, M.; Crowley, W.F.
In: Genetics in Medicine . (Genetics in Medicine, December 2022, 24(12):2501-2515)
Academic Journal
Turnbull, C.; George, A.; Firth, H.V.; Raymond, F.L.; Wilkie, A.O.M.; Tomlinson, I.; Lucassen, A.; Newman, W.; Lachmann, R.; Wright, C.F.; Wordsworth, S.; McCartney, M.
In: The Lancet . (The Lancet, 10 February 2024, 403(10426):583-586)
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[AR] Wilkie, A.O.M.
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