학술논문
'학술논문'
에서 검색결과 44건 | 목록
1~10
Academic Journal
In: Muscle and Nerve . (Muscle and Nerve, March 2024, 69(3):288-294)
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
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
Lehky, T.J.; Sackstein, P.; Tamura, D.; Khan, S.G.; DiGiovanna, J.J.; Kraemer, K.H.; Quezado, M.; Wu, T.; Wiggs, E.; Patronas, N.J.; Brewer, C.C.
In: BMC Neurology . (BMC Neurology, December 2021, 21(1))
Academic Journal
Nelson, C.N.; Rosenblum, J.S.; Hayes, C.; Scott, G.; Benzo, S.; Chittiboina, P.; Lehky, T.J.; Dombi, E.; Whitcomb, P.O.; Widemann, B.C.; Miettinen, M.M.
In: Journal of Neurosurgery . (Journal of Neurosurgery, November 2020, 133(5):1516-1526)
Academic Journal
Donkervoort, S.; Mohassel, P.; McCarty, R.M.; Nalls, M.; Foley, A.R.; Bönnemann, C.G.; Laugwitz, L.; Haack, T.B.; Horber, V.; Zaki, M.S.; Elbendary, H.M.; Kamsteeg, E.-J.; Maroofian, R.; Houlden, H.; Chao, K.R.; Verschuuren-Bemelmans, C.C.; Fock, A.J.M.; Jain, M.S.; Biancavilla, V.; McMacken, G.; Voermans, N.C.; Snyder, M.; Cai, C.; Lehky, T.J.; Stanley, V.; Gleeson, J.; Iannaccone, S.T.; Lochmüller, H.; Horvath, R.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, 1 October 2020, 182(10):2272-2283)
Academic Journal
In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration . (Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2 July 2020, 21(5-6):445-451)
Academic Journal
Burke, E.A.; Reichard, K.E.; Wolfe, L.A.; Tifft, C.J.; Gahl, W.A.; Toro, C.; Adams, D.; Hadley, D.W.; Brooks, B.P.; DiGiovanna, J.J.; Gropman, A.L.; Lehky, T.J.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, 1 May 2020, 182(5):1278-1283)
Academic Journal
Kang, P.B.; McMillan, H.J.; Kuntz, N.L.; Lehky, T.J.; Alter, K.E.; Fitzpatrick, K.F.; El Kosseifi, C.; Quijano-Roy, S.
In: Muscle and Nerve . (Muscle and Nerve, 1 February 2020, 61(2):143-155)
Academic Journal
Jha, S.; Bhattacharyya, T.; Fratzl-Zelman, N.; Roschger, P.; Klaushofer, K.; Papadakis, G.Z.; Cowen, E.W.; Kang, H.; Marini, J.C.; Lehky, T.J.; Alter, K.; Deng, Z.; Ivovic, A.; Siegel, R.M.; Flynn, L.; Reynolds, J.C.; Dasgupta, A.; Miettinen, M.; Lange, E.; Katz, J.
In: Journal of Bone and Mineral Research . (Journal of Bone and Mineral Research, January 2019, 34(1):145-156)
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[AR] Lehky, T.J.
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