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
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
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)
Academic Journal
Chien, Yin-Hsiu; Abdenur, Jose E; Baronio, Federico; Bannick, Allison Anne; Corrales, Fernando; Couce, Maria; Donner, Markus G; Ficicioglu, Can; Freehauf, Cynthia; Frithiof, Deborah; Gotway, Garrett; Hirabayashi, Koichi; Hofstede, Floris; Hoganson, George; Hwu, Wuh-Liang; James, Philip; Kim, Sook; Korman, Stanley H; Lachmann, Robin; Levy, Harvey
Periodical
McHugh, David M S; Cameron, Cynthia A; Abdenur, Jose E; Abdulrahman, Mahera; Adair, Ona; Al Nuaimi, Shahira Ahmed; Åhlman, Henrik; Allen, Jennifer J; Antonozzi, Italo; Archer, Shaina; Au, Sylvia; Auray-Blais, Christiane; Baker, Mei; Bamforth, Fiona; Beckmann, Kinga; Pino, Gessi Bentz; Berberich, Stanton L; Binard, Robert; Boemer, François; Bonham, Jim; Breen, Nancy N; Bryant, Sandra C; Caggana, Michele; Caldwell, S Graham; Camilot, Marta; Campbell, Carlene; Carducci, Claudia; Cariappa, Rohit; Carlisle, Clover; Caruso, Ubaldo; Cassanello, Michela; Castilla, Ane Miren; Ramos, Daisy E Castiñeiras; Chakraborty, Pranesh; Chandrasekar, Ram; Ramos, Alfredo Chardon; Cheillan, David; Chien, Yin-Hsiu; Childs, Thomas A; Chrastina, Petr; Sica, Yuri Cleverthon; de Juan, Jose Angel Cocho; Colandre, Maria Elena; Espinoza, Veronica Cornejo; Corso, Gaetano; Currier, Robert; Cyr, Denis; Czuczy, Noemi; D'Apolito, Oceania; Davis, Tim; de Sain-Van der Velden, Monique G; Pecellin, Carmen Delgado; Di Gangi, Iole Maria; Di Stefano, Cristina Maria; Dotsikas, Yannis; Downing, Melanie; Downs, Stephen M; Dy, Bonifacio; Dymerski, Mark; Rueda, Inmaculada; Elvers, Bert; Eaton, Roger; Eckerd, Barbara M; El Mougy, Fatma; Eroh, Sarah; Espada, Mercedes; Evans, Catherine; Fawbush, Sandy; Fijolek, Kristel F; Fisher, Lawrence; Franzson, Leifur; Frazier, Dianne M; Garcia, Luciana R C; Bermejo, Maria Sierra García-Valdecasas; Gavrilov, Dimitar; Gerace, Rosemarie; Giordano, Giuseppe; Irazabal, Yolanda González; Greed, Lawrence C; Grier, Robert; Grycki, Elyse; Gu, Xuefan; Gulamali-Majid, Fizza; Hagar, Arthur F; Han, Lianshu; Hannon, W Harry; Haslip, Christa; Hassan, Fayza Abdelhamid; He, Miao; Hietala, Amy; Himstedt, Leslie; Hoffman, Gary L; Hoffman, William; Hoggatt, Philis; Hopkins, Patrick V; Hougaard, David M; Hughes, Kerie; Hunt, Patricia R; Hwu, Wuh-Liang; Hynes, June; Ibarra-González, Isabel; Ingham, Cindy A; Ivanova, Maria; Jacox, Ward B; John, Catharine; Johnson, John P; Jónsson, Jón j; Karg, Eszter; Kasper, David; Klopper, Brenda; Katakouzinos, Dimitris; Khneisser, Issam; Knoll, Detlef; Kobayashi, Hirinori; Koneski, Ronald; Kožich, Viktor; Kouapei, Rasoul; Kohlmueller, Dirk; Kremensky, Ivo; la Marca, Giancarlo; Lavochkin, Marcia; Lee, Soo-Youn; Lehotay, Denis C; Lemes, Aida; Lepage, Joyce; Lesko, Barbara; Lewis, Barry; Lim, Carol; Linard, Sharon; Lindner, Martin; Lloyd-Puryear, Michele A; Lorey, Fred; Loukas, Yannis L; Luedtke, Julie; Maffitt, Neil; Magee, J Fergall; Manning, Adrienne; Manos, Shawn; Marie, Sandrine; Hadachi, Sônia Marchezi; Marquardt, Gregg; Martin, Stephen J; Matern, Dietrich; Gibson, Stephanie K Mayfield; Mayne, Philip; McCallister, Tonya D; McCann, Mark; McClure, Julie; McGill, James J; McKeever, Christine D; McNeilly, Barbara; Morrissey, Mark A; Moutsatsou, Paraskevi; Mulcahy, Eleanor A; Nikoloudis, Dimitris; Norgaard-Pedersen, Bent; Oglesbee, Devin; Oltarzewski, Mariusz; Ombrone, Daniela; Ojodu, Jelili; Papakonstantinou, Vagelis; Reoyo, Sherly Pardo; Park, Hyung-Doo; Pasquali, Marzia; Pasquini, Elisabetta; Patel, Pallavi; Pass, Kenneth A; Peterson, Colleen; Pettersen, Rolf D; Pitt, James J; Poh, Sherry; Pollak, Arnold; Porter, Cory; Poston, Philip A; Price, Ricky W; Queijo, Cecilia; Quesada, Jonessy; Randell, Edward; Ranieri, Enzo; Raymond, Kimiyo; Reddic, John E; Reuben, Alejandra; Ricciardi, Charla; Rinaldo, Piero; Rivera, Jeff D; Roberts, Alicia; Rocha, Hugo; Roche, Geraldine; Greenberg, Cheryl Rochman; Mellado, José María Egea; Juan-Fita, María Jesús; Ruiz, Consuelo; Ruoppolo, Margherita; Rutledge, S Lane; Ryu, Euijung; Saban, Christine; Sahai, Inderneel; García-Blanco, Maria Isabel Salazar; Santiago-Borrero, Pedro; Schenone, Andrea; Schoos, Roland; Schweitzer, Barb; Scott, Patricia; Seashore, Margretta R; Seeterlin, Mary A; Sesser, David E; Sevier, Darrin W; Shone, Scott M; Sinclair, Graham; Skrinska, Victor A; Stanley, Eleanor L; Strovel, Erin T; Jones, April L Studinski; Sunny, Sherlykutty; Takats, Zoltan; Tanyalcin, Tijen; Teofoli, Francesca; Thompson, J Robert; Tomashitis, Kathy; Domingos, Mouseline Torquado; Torres, Jasmin; Torres, Rosario; Tortorelli, Silvia; Turi, Sandor; Turner, Kimberley; Tzanakos, Nick; Valiente, Alf G; Vallance, Hillary; Vela-Amieva, Marcela; Vilarinho, Laura; von Döbeln, Ulrika; Vincent, Marie-Francoise; Vorster, B Chris; Watson, Michael S; Webster, Dianne; Weiss, Sheila; Wilcken, Bridget; Wiley, Veronica; Williams, Sharon K; Willis, Sharon A; Woontner, Michael; Wright, Katherine; Yahyaoui, Raquel; Yamaguchi, Seiji; Yssel, Melissa; Zakowicz, Wendy M
Genetics in Medicine; March 2011, Vol. 13 Issue: 3 p230-254, 25p
Periodical
Grewal, Satkiran S; Wynn, Robert; Abdenur, Jose E; Burton, Barbara K; Gharib, Maged; Haase, Claudia; Hayashi, Robert J; Shenoy, Shalini; Sillence, David; Tiller, George E; Dudek, Martha E; van Royen-Kerkhof, Annet; Wraith, James E; Woodard, Paul; Young, Guy A; Wulffraat, Nico; Whitley, Chester B; Peters, Charles
Genetics in Medicine; February 2005, Vol. 7 Issue: 2 p143-146, 4p
Periodical
Abdenur, José E; Chamoles, Néstor A; Schenone, Andrea B; Jorge, Lía; Guinle, Adolfo; Bernard, Cristina; Levandovskiy, Valeriy; Fusta, Marta; Lavorgna, Silvana
Pediatric Research; July 2001, Vol. 50 Issue: 1 p61-66, 6p
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[AR] Abdenur, Jose E
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