학술논문
'학술논문'
에서 검색결과 281건 | 목록
1~10
Academic Journal
Lunke, S.; Downie, L.; Archibald, A.; De Fazio, P.; Greaves, R.F.; Hollizeck, S.; Lang, N.; Sadedin, S.; Eggers, S.; Lee, C.; Wall, M.; Yeung, A.; Stark, Z.; Amor, D.J.; Christodoulou, J.; Kanga-Parabia, A.; Lynch, F.; Peters, R.; Tutty, E.; Gaff, C.; Gyngell, C.; Vears, D.F.; Goranitis, I.; Bouffler, S.E.; Best, S.; Caruana, J.; Bombard, Y.; Clausen, M.
In: BMJ Open . (BMJ Open, 3 April 2024, 14(4))
Academic Journal
In: European Journal of Human Genetics . (European Journal of Human Genetics, April 2024, 32(4):440-447)
Academic Journal
Morison, L.D.; Morgan, A.T.; Van Reyk, O.; Baker, E.; Amor, D.J.; Ruaud, L.; Couque, N.; Verloes, A.
In: European Journal of Medical Genetics . (European Journal of Medical Genetics, April 2024, 68)
Academic Journal
Shepherdson, J.L.; Hutchison, K.; Nicolet, C.M.; Farnham, P.J.; Don, D.W.; Choi, T.-I.; Kim, C.-H.; McGillivray, G.; White, S.M.; Amor, D.J.; Lockhart, P.; Pope, K.; Allan, C.A.; Banka, S.; Jackson, A.; Basel, D.G.; McCarrier, J.; Buch, L.D.; Stolerman, E.; Carere, D.A.; Schnur, R.E.; Carroll, R.; Shaw, M.; Corbett, M.A.; Gecz, J.; Clayton-Smith, J.; Crawford, A.; Taylor, J.P.; Dunø, M.; Østergaard, E.; Faivre, L.; Maraval, J.; Gilfillan, C.P.; McCarthy, J.; Gold, N.B.; Gripp, K.W.; Wadman, E.; Hobson, E.; Amel Riazat Kesh, L.; Holtz, A.M.; Innes, A.M.; Isidor, B.; Küry, S.; Katsonis, P.; Posey, J.E.; Lupski, J.R.; Lichtarge, O.; Lecoquierre, F.; Matsumoto, N.; Miyake, N.; Moey, L.H.; Németh, A.H.; Patel, R.; Wakeling, E.; Wong, L.C.; Shinawi, M.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 7 March 2024, 111(3):487-508)
Academic Journal
In: Developmental Medicine and Child Neurology . (Developmental Medicine and Child Neurology, February 2024, 66(2):258-266)
Academic Journal
Dias, K.-R.; Evans, C.-A.; Zhu, Y.; Zhang, F.; Roscioli, T.; Shrestha, R.; Schofield, D.; Standen, K.; Lucas, C.; Carey, L.; Cliffe, C.; Elakis, G.; Kirk, E.P.; Fletcher, J.; Walsh, R.; Buckley, M.F.; O'Heir, E.; Weisburd, B.; Stenton, S.L.; Sanchis-Juan, A.; Brand, H.; Talkowski, M.E.; O'Donnell-Luria, A.; Dudding-Byth, T.; Field, M.; Ma, A.; Wilson, M.; Sandaradura, S.A.; Smith, J.; Adès, L.C.; Ghedia, S.; Kamien, B.; Turner, A.; Mowat, D.; Ewans, L.J.; Bakshi, M.; Regan, M.; Krzesinski, E.; Hunter, M.F.; Fennell, A.P.; McGillivray, G.; Savarirayan, R.; White, S.M.; Tan, T.Y.; Stark, Z.; Brown, N.J.; Yeung, A.; Wall, M.; Lunke, S.; Boughtwood, T.; North, K.; Amor, D.J.; Pérez-Jurado, L.A.; Akesson, L.; Rapadas, M.; Stevanovski, I.; Deveson, I.W.; Kerkhof, J.; Sadikovic, B.; French, H.; Corbett, M.A.; Kroes, T.; Gecz, J.; Meldrum, C.; Cliffe, S.
In: Genetics in Medicine . (Genetics in Medicine, May 2024, 26(5))
Academic Journal
Downie, L.; Christodoulou, J.; Yeung, A.; Macciocca, I.; Archibald, A.D.; Wall, M.; Lunke, S.; Stark, Z.; Bouffler, S.E.; Amor, D.J.; Caruana, J.; Horton, A.E.
In: Genetics in Medicine . (Genetics in Medicine, May 2024, 26(5))
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay
Academic Journal
Ha, T.; Slavotinek, A.; Morgan, A.; Amor, D.J.; Bartos, M.N.; Hurst, A.C.E.; Beatty, K.; Cogné, B.; Nizon, M.; Vincent, M.; Braun, D.; Gerber, C.B.; Gaspar, H.; Kopps, A.M.; Rieubland, C.; Zweier, C.; Pasquier, L.; Pfundt, R.; de Vries, B.B.A.; Reis, A.; Siu, V.M.; Tessarech, M.; Thompson, M.L.; Walsh, M.B.; Wechsler, S.B.; Schnur, R.E.; Guillen Sacoto, M.J.; Margot, H.; Masotto, B.; Palafoll, M.I.V.; Nawaz, U.; Voineagu, I.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, 2024)
Academic Journal
Kooshavar, D.; Amor, D.J.; de Silva, M.G.; Snell, P.; Bozaoglu, K.; Pope, K.; Scheffer, I.E.; Lockhart, P.J.; Leventer, R.J.; Boggs, K.; Sachdev, R.; Marum, J.E.; Baker, N.; Barnett, C.; Edwards, S.; Fahey, M.C.; Mohammad, S.S.; Riney, K.; Schenscher, S.; Silberstein, J.; Smith, N.; Tom, M.; Ware, T.L.
In: Brain Communications . (Brain Communications, 2024, 6(2))
Academic Journal
Forbes, E.J.; Morison, L.D.; Lelik, F.; Howell, T.; Debono, S.; Amor, D.J.; Morgan, A.T.; Goel, H.; Burger, P.; Mandel, J.-L.; Geneviève, D.
In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics . (American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 2024)
검색 결과 제한하기
제한된 항목
[AR] Amor, D.J.
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어