학술논문
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Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes
Academic Journal
Simon, Mariella T; Eftekharian, Shaya S; Stover, Alexander E; Osborne, Aaron F; Braffman, Bruce H; Chang, Richard C; Wang, Raymond Y; Steenari, Maija R; Tang, Sha; Hwu, Paul Wuh-Liang; Taft, Ryan J; Benke, Paul J; Abdenur, Jose E
Molecular Genetics and Metabolism. 126(1)
Academic Journal
McHugh, DMS; Cameron, CA; Abdenur, JE; Abdulrahman, M; Adair, O; Al Nuaimi, SA; Ahlman, H; Allen, JJ; Antonozzi, I; Archer, S; Au, S; Auray-Blais, C; Baker, M; Bamforth, F; Beckmann, K; Pino, GB; Berberich, SL; Binard, R; Boemer, F; Bonham, J; Breen, NN; Bryant, SC; Caggana, M; Caldwell, SG; Camilot, M; Campbell, C; Carducci, C; Cariappa, R; Carlisle, C; Caruso, U; Cassanello, M; Castilla, AM; Ramos, DEC; Chakraborty, P; Chandrasekar, R; Ramos, AC; Cheillan, D; Chien, YH; Childs, TA; Chrastina, P; Sica, YC; de Juan, JAC; Colandre, ME; Espinoza, VC; Corso, G; Currier, R; Cyr, D; Czuczy, N; D'Apolito, O; Davis, T; de Sain-Van der Velden, MG; Pecellin, CD; Di Gangi, IM; Di Stefano, CM; Dotsikas, Y; Downing, M; Downs, SM; Dy, B; Dymerski, M; Rueda, I; Elvers, B; Eaton, R; Eckerd, BM; El Mougy, F; Eroh, S; Espada, M; Evans, C; Fawbush, S; Fijolek, KF; Fisher, L; Franzson, L; Frazier, DM; Garcia, LRC; Bermejo, MSGV; Gavrilov, D; Gerace, R; Giordano, G; Irazabal, YG; Greed, LC; Grier, R; Grycki, E; Gu, XF; Gulamali-Majid, F; Hagar, AF; Han, LS; Hannon, WH; Haslip, C; Hassan, FA; He, MA; Hietala, A; Himstedt, L; Hoffman, GL; Hoffman, W; Hoggatt, P; Hopkins, PV; Hougaard, DM; Hughes, K; Hunt, PR; Hwu, WL; Hynes, J; Ibarra-Gonzalez, I; Ingham, CA; Ivanova, M; Jacox, WB; John, C; Johnson, JP; Jonsson, JJ; Karg, E; Kasper, D; Klopper, B; Katakouzinos, D; Khneisser, I; Knoll, D; Kobayashi, H; Koneski, R; Kozich, V; Kouapei, R; Kohlmueller, D; Kremensky, I; la Marca, G; Lavochkin, M; Lee, SY; Lehotay, DC; Lemes, A; Lepage, J; Lesko, B; Lewis, B; Lim, C; Linard, S; Lindner, M; Lloyd-Puryear, MA; Lorey, F; Loukas, YL; Luedtke, J; Maffitt, N; Magee, JF; Manning, A; Manos, S; Marie, S; Hadachi, SM; Marquardt, G; Martin, SJ; Matern, D; Gibson, SKM; Mayne, P; McCallister, TD; McCann, M; McClure, J; McGill, JJ; McKeever, CD; McNeilly, B; Morrissey, MA; Moutsatsou, P; Mulcahy, EA; Nikoloudis, D; Norgaard-Pedersen, B; Oglesbee, D; Oltarzewski, M; Ombrone, D; Ojodu, J; Papakonstantinou, V; Reoyo, SP; Park, HD; Pasquali, M; Pasquini, E; Patel, P; Pass, KA; Peterson, C; Pettersen, RD; Pitt, JJ; Poh, S; Pollak, A; Porter, C; Poston, PA; Price, RW; Queijo, C; Quesada, J; Randell, E; Ranieri, E; Raymond, K; Reddic, JE; Reuben, A; Ricciardi, C; Rinaldo, P; Rivera, JD; Roberts, A; Rocha, H; Roche, G; Greenberg, CR; Mellado, JME; Juan-Fita, MJ; Ruiz, C; Ruoppolo, M; Rutledge, SL; Ryu, EJ; Saban, C; Sahai, I; Garcia-Blanco, MIS; Santiago-Borrero, P; Schenone, A; Schoos, R; Schweitzer, B; Scott, P; Seashore, MR; Seeterlin, MA; Sesser, DE; Sevier, DW; Shone, SM; Sinclair, G; Skrinska, VA; Stanley, EL; Strovel, ET; Jones, ALS; Sunny, S; Takats, Z; Tanyalcin, T; Teofoli, F; Thompson, JR; Tomashitis, K; Domingos, MT; Torres, J; Torres, R; Tortorelli, S; Turi, S; Turner, K; Tzanakos, N; Valiente, AG; Vallance, H; Vela-Amieva, M; Vilarinho, L; von Dobeln, U; Vincent, MF; Vorster, BC; Watson, MS; Webster, D; Weiss, S; Wilcken, B; Wiley, V; Williams, SK; Willis, SA; Woontner, M; Wright, K; Yahyaoui, R; Yamaguchi, S; Yssel, M; Zakowicz, WM
Genetics in medicine : official journal of the American College of Medical Genetics. 13(3):230-254
Academic Journal
Gudny A. Arnadottir; Asmundur Oddsson; Brynjar O. Jensson; Svanborg Gisladottir; Mariella T. Simon; Asgeir O. Arnthorsson; Hildigunnur Katrinardottir; Run Fridriksdottir; Erna V. Ivarsdottir; Adalbjorg Jonasdottir; Aslaug Jonasdottir; Rebekah Barrick; Jona Saemundsdottir; Louise le Roux; Gudjon R. Oskarsson; Jurate Asmundsson; Thora Steffensen; Kjartan R. Gudmundsson; Petur Ludvigsson; Jon J. Jonsson; Gisli Masson; Ingileif Jonsdottir; Hilma Holm; Jon G. Jonasson; Olafur Th. Magnusson; Olafur Thorarensen; Jose Abdenur; Gudmundur L. Norddahl; Daniel F. Gudbjartsson; Hans T. Bjornsson; Unnur Thorsteinsdottir; Patrick Sulem; Kari Stefansson
Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)
Academic Journal
Eichwald, Tuany; da Silva, Lucila de Bortoli; Staats Pires, Ananda Christina; Niero, Laís; Schnorrenberger, Erick; Filho, Clovis Colpani; Espíndola, Gisele; Huang, Wei-Lin; Guillemin, Gilles J.; Abdenur, José E.; Latini, Alexandra
Antioxidants. May 2023, Vol. 12 Issue 5
Academic Journal
American Journal of Perinatology Reports, Vol 13, Iss 01, Pp e11-e16 (2023)
Academic Journal
Simon, Mariella T; Ng, Bobby G; Friederich, Marisa W; Wang, Raymond Y; Boyer, Monica; Kircher, Martin; Collard, Renata; Buckingham, Kati J; Chang, Richard; Shendure, Jay; Nickerson, Deborah A; Bamshad, Michael J; Genomics, University of Washington Center for Mendelian; Van Hove, Johan LK; Freeze, Hudson H; Abdenur, Jose E
Academic Journal
Vockley, J; Charrow, J; Ganesh, J; Eswara, M; Diaz, GA; McCracken, E; Conway, R; Enns, GM; Starr, J; Wang, R; Abdenur, JE; Sanchez-de-Toledo, J; Marsden, DL
Molecular Genetics and Metabolism. 119(3)
Academic Journal
Tuany Eichwald; Lucila de Bortoli da Silva; Ananda Christina Staats Pires; Laís Niero; Erick Schnorrenberger; Clovis Colpani Filho; Gisele Espíndola; Wei-Lin Huang; Gilles J. Guillemin; José E. Abdenur; Alexandra Latini
Antioxidants, Vol 12, Iss 5, p 1037 (2023)
Academic Journal
Ng, Bobby G; Shiryaev, Sergey A; Rymen, Daisy; Eklund, Erik A; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E; Alehan, Fusun; Midro, Alina T; Bamshad, Michael J; Barone, Rita; Berry, Gerard T; Brumbaugh, Jane E; Buckingham, Kati J; Clarkson, Katie; Cole, F Sessions; O'Connor, Shawn; Cooper, Gregory M; Coster, Rudy; Demmer, Laurie A; Diogo, Luisa; Fay, Alexander J; Ficicioglu, Can; Fiumara, Agata; Gahl, William A; Ganetzky, Rebecca; Goel, Himanshu; Harshman, Lyndsay A; He, Miao; Jaeken, Jaak; James, Philip M; Katz, Daniel; Keldermans, Liesbeth; Kibaek, Maria; Kornberg, Andrew J; Lachlan, Katherine; Lam, Christina; Yaplito‐Lee, Joy; Nickerson, Deborah A; Peters, Heidi L; Race, Valerie; Régal, Luc; Rush, Jeffrey S; Rutledge, S Lane; Shendure, Jay; Souche, Erika; Sparks, Susan E; Trapane, Pamela; Sanchez‐Valle, Amarilis; Vilain, Eric; Vøllo, Arve; Waechter, Charles J; Wang, Raymond Y; Wolfe, Lynne A; Wong, Derek A; Wood, Tim; Yang, Amy C; Genomics, University of Washington Center for Mendelian; Matthijs, Gert; Freeze, Hudson H
Human Mutation. 37(7)
Academic Journal
Wang, Raymond Y; Monuki, Edwin S; Powers, James; Schwartz, Phillip H; Watkins, Paul A; Shi, Yang; Moser, Ann; Shrier, David A; Waterham, Hans R; Nugent, Diane J; Abdenur, Jose E
Journal of Inherited Metabolic Disease. 37(5)
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