학술논문
'학술논문'
에서 검색결과 29건 | 목록
1~10
Academic Journal
Shchelochkov, O.A.; Ferry, S.; Manoli, I.; Pass, A.; McCoy, S.; Van Ryzin, C.; Sloan, J.; Venditti, C.P.; Farmer, C.A.; Chlebowski, C.; Adedipe, D.; Thurm, A.
In: Molecular Psychiatry . (Molecular Psychiatry, 2024)
Academic Journal
Tenney, A.P.; Di Gioia, S.A.; Chan, W.-M.; Garnai, S.J.; Barry, B.J.; Ray, T.; Collins, T.E.; Gelber, A.; Pratt, B.M.; Torres, A.; Engle, E.C.; Whitman, M.C.; Webb, B.D.; Zhang, Z.; Warburton, P.E.; Jabs, E.W.; Orkin, S.H.; de Boer, E.; Kleefstra, T.; Vissers, L.E.L.M.; van Bokhoven, H.; Kosicki, M.; Pennacchio, L.A.; Robson, C.D.; Fujiwara, Y.; Varshney, A.; Parker, S.C.J.; Lek, M.; Van Ryzin, C.; Manoli, I.; Lehky, T.J.; Zalewski, C.; King, K.A.; Brewer, C.C.; Thurm, A.; Snow, J.; Facio, F.M.; Narisu, N.; Bonnycastle, L.L.; Swift, A.; Chines, P.S.; Collins, F.S.; Bell, J.L.; Mohan, S.; Hadlock, T.A.; Staffieri, S.E.; Elder, J.E.; Demer, J.L.; Rachid, E.; Al-Haddad, C.; Boustany, R.-M.; Mackey, D.A.; Brady, A.F.; Fenollar-Cortés, M.; Fradin, M.; Padberg, G.W.; Raskin, S.; Sato, M.T.
In: Nature Genetics . (Nature Genetics, July 2023, 55(7):1149-1163)
Academic Journal
Pangilinan, F.; Bernard, D.; Ozel-Abaan, H.; Kaur, M.; Brody, L.C.; Watkins, D.; Rosenblatt, D.S.; Chen, Y.; Dong, N.; Wu, Q.; Caggana, M.; Morrissey, M.; Kay, D.M.; Browne, M.L.; Mills, J.L.; Van Ryzin, C.; Shchelochkov, O.; Sloan, J.; Venditti, C.P.; Sarafoglou, K.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, April 2022, 188(4):1124-1141)
Academic Journal
Whitman, M.C.; MacKinnon, S.; Hunter, D.G.; Barry, B.J.; Chan, W.-M.; Engle, E.C.; Robson, C.D.; Facio, F.M.; Van Ryzin, C.; Lee, P.R.; Collins, F.S.; Manoli, I.; Lehky, T.J.; Thurm, A.; Zalewski, C.; King, K.A.; Brewer, C.; Almpani, K.; Lee, J.S.; Webb, B.D.; Delaney, A.; FitzGibbon, E.J.; Toro, C.; Paul, S.M.; Abdul-Rahman, O.A.; Jabs, E.W.; Moller, H.U.; Larsen, D.A.; Antony, J.H.; Troedson, C.; Ma, A.; Ragnhild, G.; Wirgenes, K.V.; Tham, E.; Kvarnung, M.; Maarup, T.J.
In: Human Genetics . (Human Genetics, December 2021, 140(12):1709-1731)
Academic Journal
Shchelochkov, O.A.; Manoli, I.; Sloan, J.L.; Ferry, S.; Pass, A.; McCoy, S.; Van Ryzin, C.; Venditti, C.P.; Juneau, P.; Myles, J.; Schoenfeld, M.; Wenger, O.; Levin, M.; Zein, W.; Huryn, L.; Snow, J.; Chlebowski, C.; Thurm, A.; Kopp, J.B.; Chen, K.Y.
In: Genetics in Medicine . (Genetics in Medicine, August 2021, 23(8):1534-1542)
Academic Journal
Manoli, I.; Pass, A.R.; Harrington, E.A.; Sloan, J.L.; Gagné, J.; McCoy, S.; Galarreta, C.I.; Van Ryzin, C.; Ferry, S.; Shchelochkov, O.A.; Venditti, C.P.; Bell, S.L.; Hattenbach, J.D.; Leitner, B.P.; Duckworth, C.J.; Fletcher, L.A.; Cassimatis, T.M.; Chen, K.Y.; Thurm, A.; Snow, J.; Mew, N.A.
In: Genetics in Medicine . (Genetics in Medicine, August 2021, 23(8):1522-1533)
Academic Journal
Lehky, T.; Joseph, R.; Toro, C.; Wu, T.; Van Ryzin, C.; Facio, F.M.; Manoli, I.; Gropman, A.; Webb, B.D.; Jabs, E.W.; Barry, B.S.; Engle, E.C.; Collins, F.S.
In: Muscle and Nerve . (Muscle and Nerve, April 2021, 63(4):516-524)
Academic Journal
Manoli, I.; Gebremariam, A.; McCoy, S.; Pass, A.R.; Gagné, J.; Hall, C.; Ferry, S.; Van Ryzin, C.; Sloan, J.L.; Venditti, C.P.; Sacchetti, E.; Catesini, G.; Rizzo, C.; Martinelli, D.; Dionisi-Vici, C.; Spada, M.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, July 2023, 46(4):554-572)
Academic Journal
Sadeghi, N.; Hutchinson, E.; Pierpaoli, C.; Van Ryzin, C.; Facio, F.; Collins, F.S.; Manoli, I.; Fitzgibbon, E.J.; Brooks, B.P.; Butman, J.A.; Webb, B.D.; Jabs, E.W.; Engle, E.C.
In: Brain Communications . (Brain Communications, 2020, 2(1))
Academic Journal
Shchelochkov, O.A.; Manoli, I.; Sloan, J.L.; Ferry, S.; Pass, A.; Van Ryzin, C.; McGuire, P.; Venditti, C.P.; Myles, J.; Schoenfeld, M.; Rosing, D.R.; Levin, M.D.; Kopp, J.B.
In: Genetics in Medicine . (Genetics in Medicine, 1 December 2019, 21(12):2830-2835)
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[AR] Van Ryzin, C.
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