학술논문
'학술논문'
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1~10
Academic Journal
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
Academic Journal
Cascajo-Almenara, Marivi V.; Juliá-Palacios, Natalia.; Urreizti, Roser; Sánchez-Cuesta, Ana; Fernández-Ayala, Daniel M.; García-Díaz, Elena; Oliva, Clara; O´Callaghan, Maria del Mar; Paredes-Fuentes, Abraham J.; Moreno-Lozano, Pedro J.; Muchart, Jordi; Nascimento, Andres; Ortez, Carlos I.; Natera-de Benito, Daniel; Pineda, Mercedes; Rivera, Noelia; Fortuna, Tyler R.; Rajan, Deepa S.; Navas, Plácido; Salviati, Leonardo; Palau, Francesc; Yubero, Delia; García-Cazorla, Angels; Pandey, Udai Bhan; Santos-Ocaña, Carlos; Artuch, Rafael
European Journal of Human Genetics. 32(4):426-434
Academic Journal
Natera-de Benito, Daniel; Pugliese, Alessia; Polavarapu, Kiran; Guergueltcheva, Velina; Tournev, Ivailo; Todorova, Albena; Afonso Ribeiro, Joana; Fernández-Mayoralas, Daniel M.; Ortez, Carlos; Martorell, Loreto; Estévez-Arias, Berta; Matalonga, Leslie; Laurie, Steven; Jou, Cristina; Lau, Jarred; Thompson, Rachel; Shen, Xinming; Engel, Andrew G.; Nascimento, Andres; Lochmüller, Hanns; Selcen, Duygu
In Pediatric Neurology August 2024 157:5-13
Academic Journal
Nascimento, Andres; Bruels, Christine C.; Donkervoort, Sandra; Foley, A. Reghan; Codina, Anna; Milisenda, Jose C.; Estrella, Elicia A.; Li, Chengcheng; Pijuan, Jordi; Draper, Isabelle; Hu, Ying; Stafki, Seth A.; Pais, Lynn S.; Ganesh, Vijay S.; O’Donnell-Luria, Anne; Syeda, Safoora B.; Carrera-García, Laura; Expósito-Escudero, Jessica; Yubero, Delia; Martorell, Loreto; Pinal-Fernandez, Iago; Lidov, Hart G. W.; Mammen, Andrew L.; Grau-Junyent, Josep M.; Ortez, Carlos; Palau, Francesc; Ghosh, Partha S.; Darras, Basil T.; Jou, Cristina; Kunkel, Louis M.; Hoenicka, Janet; Bönnemann, Carsten G.; Kang, Peter B.; Natera-de Benito, Daniel
Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. 145(4):479-496
Academic Journal
Xavier Suárez-Calvet; Esther Fernández-Simón; Daniel Natera; Cristina Jou; Patricia Pinol-Jurado; Elisa Villalobos; Carlos Ortez; Alexandra Monceau; Marianela Schiava; Anna Codina; José Verdu-Díaz; James Clark; Zoe Laidler; Priyanka Mehra; Rasya Gokul-Nath; Jorge Alonso-Perez; Chiara Marini-Bettolo; Giorgio Tasca; Volker Straub; Michela Guglieri; Andrés Nascimento; Jordi Diaz-Manera
Cell Death and Disease, Vol 14, Iss 9, Pp 1-15 (2023)
Academic Journal
Payam Mohassel; Pomi Yun; Safoora Syeda; Abhinandan Batra; Andrew J. Bradley; Sandra Donkervoort; Soledad Monges; Julie S. Cohen; Doris G. Leung; Francina Munell; Carlos Ortez; Angel Sánchez‐Montáñez; Peter Karachunski; John Brandsema; Livija Medne; Vinay Chaudhry; Giorgio Tasca; A. Reghan Foley; Bjarne Udd; Andrew E. Arai; Glenn A. Walter; Carsten G. Bönnemann
Annals of Clinical and Translational Neurology, Vol 10, Iss 8, Pp 1442-1455 (2023)
Academic Journal
Suárez-Calvet, Xavier; Fernández-Simón, Esther; Natera, Daniel; Jou, Cristina; Pinol-Jurado, Patricia; Villalobos, Elisa; Ortez, Carlos; Monceau, Alexandra; Schiava, Marianela; Codina, Anna; Verdu-Díaz, José; Clark, James; Laidler, Zoe; Mehra, Priyanka; Gokul-Nath, Rasya; Alonso-Perez, Jorge; Marini-Bettolo, Chiara; Tasca, Giorgio; Straub, Volker; Guglieri, Michela; Nascimento, Andrés; Diaz-Manera, Jordi
Cell Death & Disease. 14(9)
Academic Journal
Daniel Natera‐de Benito; Jonathan Olival; Carla Garcia‐Cabau; Cristina Jou; Mònica Roldan; Anna Codina; Jessica Expósito‐Escudero; Cristina Batlle; Laura Carrera‐García; Carlos Ortez; Xavier Salvatella; Francesc Palau; Andrés Nascimento; Janet Hoenicka
Annals of Clinical and Translational Neurology, Vol 10, Iss 3, Pp 408-425 (2023)
Academic Journal
Gomez, Jesus Alfonso Armijo; Fernandez-Garcia, Miguel A.; Camacho, Ana; Liz, Marlin; Ortez, Carlos; Lafuente-Hidalgo, Miguel; Bravo-de Laguna, Laura Toledo; Estevez-Arias, Berta; Carrera-Garcia, Laura; Exposito-Escudero, Jessica; Dominguez-Carral, Jana; Nascimento, Andres; Natera-de Benito, Daniel
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[검색어] Ortez, Carlos
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