학술논문
'학술논문'
에서 검색결과 16건 | 목록
1~10
Academic Journal
Tischkowitz, M.; Tischkowitz, M.; Tischkowitz, M.; Maher, E.; Colas, C.; Colas, C.; Colas, C.; Pouwels, S.; Pouwels, S.; Hoogerbrugge, N.; Hoogerbrugge, N.; Vos, J.; Hoogerbrugge, N.; Ligtenberg, M.; Bisseling, T.; Bubien, V.; Longy, M.; Caux, F.; Chabbert-Buffet, N.; Da Mota Gomes, S.; Gotthardt, M.; Mann, R.; Kool, L.S.; Kets, M.; Lachlan, K.L.; Links, T.P.; Semple, R.K.; Stock, I.; Oostenbrink, R.; Sijmons, R.; Evans, G.; Woodward, E.; Ferner, R.E.; Aretz, S.; Spier, I.; Steinke-Lange, V.; Holinski-Feder, E.; Schröck, E.; Frebourg, T.; Houdayer, C.; Wolkenstein, P.; Bours, V.; Legius, E.; Poppe, B.; Claes, K.; de Putter, R.; Guillermo, I.B.; Capella, G.; Vidal, J.B.; Lázaro, C.; Balmaña, J.; Hernandez, H.S.; Oliveira, C.; Teixeira, M.; Bajalica-Lagercrantz, S.; Tham, E.; Lubinski, J.; Ertmanska, K.; Melegh, B.; Krajc, M.; Blatnik, A.; Peltonen, S.; Hietala, M.
In: European Journal of Human Genetics . (European Journal of Human Genetics, 1 October 2020, 28(10):1387-1393)
Academic Journal
Gardner, E.J.; Prigmore, E.; Gallone, G.; Danecek, P.; Samocha, K.E.; Handsaker, J.; Gerety, S.S.; Ironfield, H.; Short, P.J.; Singh, T.; Firth, H.V.; Hurles, M.E.; Sifrim, A.; Chandler, K.E.; Clement, E.; Rosser, E.; Lachlan, K.L.; Prescott, K.; FitzPatrick, D.R.
In: Nature Communications . (Nature Communications, 1 December 2019, 10(1))
Academic Journal
Bateman, M.S.; Collinson, M.N.; Bunyan, D.J.; Duncan, P.; Kirk, B.; Maloney, V.K.; Collins, A.L.; Firth, R.; Harrison, V.; Lachlan, K.L.; Homfray, T.; Huang, S.; Barber, J.C.K.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, February 2018, 176(2):319-329)
Academic Journal
Ansari, M.; Rainger, J.; Hanson, I.M.; Williamson, K.A.; Sharkey, F.; Harewood, L.; Sandilands, A.; Fantes, J.; Van Heyningen, V.; Fitzpatrick, D.R.; Clayton-Smith, J.; Dollfus, H.; Bitoun, P.; Meire, F.; Franco, B.; Lorenz, B.; Taylor, D.S.; Russell-Eggitt, I.; Islam, L.; Beales, P.L.; Stewart, F.; Willoughby, C.E.; McEntagart, M.; Khaw, P.T.; Moore, A.T.; Tuft, S.J.; Clericuzio, C.; Van Maldergem, L.; Williams, D.; Newbury-Ecob, R.; Traboulsi, E.I.; Silva, E.D.; Madlom, M.M.; Goudie, D.R.; Fleck, B.W.; Wieczorek, D.; Kohlhase, J.; McTrusty, A.D.; Gardiner, C.; Yale, C.; Lees, M.; Solano, J.B.; Splitt, M.; Hertz, J.M.; Prescott, T.E.; Shears, D.J.; Nischal, K.K.; Doco-Fenzy, M.; Prieur, F.; Temple, I.K.; Lachlan, K.L.; Damante, G.; Morrison, D.A.
In: PLoS ONE . (PLoS ONE, April 2016, 11(4))
Academic Journal
Parker, M.J.; Fryer, A.E.; Shears, D.J.; Lachlan, K.L.; Mckee, S.A.; Magee, A.C.; Mohammed, S.; Vasudevan, P.C.; Park, S.-M.; Benoit, V.; Lederer, D.; Maystadt, I.; study, D.; Fitzpatrick, D.R.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, 1 October 2015, 167(10):2231-2237)
Academic Journal
Barber, J.C.K.; Rosenfeld, J.A.; Graham, J.M.; Kramer, N.; Lachlan, K.L.; Bateman, M.S.; Collinson, M.N.; Beal, S.J.; Massiah, J.; Taylor, E.-J.; Stadheim, B.F.; Turner, C.L.S.; Gauthier, J.N.; Reimschisel, T.E.; Qureshi, A.M.; Dabir, T.A.; Humphreys, M.W.; Marble, M.; Huang, T.; Wynn, S.L.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, 1 September 2015, 167(9):2052-2064)
Academic Journal
Pal, A.; Barber, T.M.; Van De Bunt, M.; Levy, J.C.; Karpe, F.; Gloyn, A.L.; Linden, H.; Walker, L.; Rudge, S.A.; Zhang, Q.; Wakelam, M.J.O.; Lachlan, K.L.; Cooper, N.S.
In: New England Journal of Medicine . (New England Journal of Medicine, 13 September 2012, 367(11):1002-1011)
Academic Journal
In: Journal of Medical Genetics . (Journal of Medical Genetics, September 2007, 44(9):579-585)
Academic Journal
In: European Journal of Ophthalmology . (European Journal of Ophthalmology, January/February 2006, 16(1):153-160)
Academic Journal
In: Human Genetics . (Human Genetics, January 2006, 118(5):640-651)
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[AR] Lachlan, K.L.
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