학술논문
'학술논문'
에서 검색결과 115건 | 목록
20~30
Academic Journal
In: Documenta Ophthalmologica . (Documenta Ophthalmologica, February 2021, 142(1):111-118)
Academic Journal
Crawford, N.; Tishkoff, S.A.; Sondheimer, N.; Prendergast, D.A.; Oehlert, J.W.; Shaw, G.M.; Stevenson, D.K.; Rappaport, N.; Sirota, M.
In: Journal of Pediatrics . (Journal of Pediatrics, October 2023, 261)
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
Academic Journal
McCormick, E.M.; Falk, M.J.; Lott, M.T.; Singh, L.N.; Zhang, S.; Wallace, D.C.; Dulik, M.C.; Shen, L.; Merkurjev, D.; Gai, X.; Attimonelli, M.; Vitale, O.; Karaa, A.; Bai, R.; Pineda-Alvarez, D.E.; Wong, S.; Stanley, C.M.; Bhardwaj, A.; Mao, R.; Sondheimer, N.; Procaccio, V.
In: Human Mutation . (Human Mutation, December 2020, 41(12):2028-2057)
Academic Journal
Roifman, M.; Niles, K.M.; Sondheimer, N.; Mercimek-Andrews, S.; Schulze, A.; Hewson, S.; Chitayat, D.; Godoy, R.; van Mieghem, T.; Ryan, G.; Seaward, G.; MacNeil, L.; Blaser, S.; Noor, A.; Morgen, E.K.; Hojilla, C.; Kolomietz, E.; Watkins, N.; Shannon, P.; Ovadia, A.; Häberle, J.
In: Clinical Genetics . (Clinical Genetics, December 2020, 98(6):613-619)
Academic Journal
In: Mitochondrial DNA Part B: Resources . (Mitochondrial DNA Part B: Resources, 2 July 2020, 5(3):2147-2148)
Academic Journal
In: Annals of Clinical and Translational Neurology . (Annals of Clinical and Translational Neurology, 1 July 2020, 7(7):1132-1140)
Academic Journal
Soudek, L.; Guerin, A.; Walia, J.S.; Kehar, M.; Siddiqui, I.; Abuquteish, D.; Sondheimer, N.; Inbar-Feigenberg, M.; Kamath, B.M.
In: Pediatric Transplantation . (Pediatric Transplantation, 1 June 2020, 24(4))
Academic Journal
Tingley, K.; Pugliese, M.; Geraghty, M.T.; Potter, B.K.; Coyle, D.; Wilson, K.; Little, J.; Chakraborty, P.; Lamoureux, M.; Kowalski, M.; Langley, E.; Lines, M.; Kronick, J.B.; Austin, V.; Feigenbaum, A.; Inbar-Feigenberg, M.; Mercimek-Andrews, S.; Nagy, L.; Schulze, A.; Sondheimer, N.; Wilson, A.; Brunel-Guitton, C.; Mitchell, G.; Buhas, D.; Mitchell, J.J.; Trakadis, Y.; Chan, A.K.J.; Ghai, S.J.; Siriwardena, K.; Dyack, S.; Goobie, S.; Vandersteen, A.; Giezen, A.; Salvarinova, R.; Stockler-Ipsiroglu, S.; Van Karnebeek, C.; Vallance, H.; Yuskiv, N.; Greenberg, C.R.; Mhanni, A.; Karp, N.; Napier, M.; Prasad, C.; Ratko, S.; Yu, A.C.; Kozenko, M.; MacKenzie, J.; Pender, A.; Potter, M.; Maranda, B.; Mohan, C.; Sparkes, R.; Turner, L.; Wilson, B.J.; Walia, J.
In: Orphanet Journal of Rare Diseases . (Orphanet Journal of Rare Diseases, 10 April 2020, 15(1))
Academic Journal
Fan, W.; Zheng, J.; Cui, L.; Aishanjiang, M.; Yi, Q.; Cang, X.; Chen, Y.; Guan, M.-X.; Ge, W.; Kong, W.; Wang, M.; Tang, X.; Mo, J.Q.; Sondheimer, N.
In: Journal of Biological Chemistry . (Journal of Biological Chemistry, 13 December 2019, 294(50):19292-19305)
Academic Journal
In: Molecular Genetics and Metabolism Reports . (Molecular Genetics and Metabolism Reports, December 2019, 21)
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제한된 항목
[AR] Sondheimer, N.
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