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
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
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
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
Schlüter, Agatha; Vélez-Santamaría, Valentina; Verdura, Edgard; Rodríguez-Palmero, Agustí; Ruiz, Montserrat; Fourcade, Stéphane; Planas-Serra, Laura; Launay, Nathalie; Guilera, Cristina; Martínez, Juan José; Homedes-Pedret, Christian; Albertí-Aguiló, M. Antonia; Zulaika, Miren; Martí, Itxaso; Troncoso, Mónica; Tomás-Vila, Miguel; Bullich, Gemma; García-Pérez, M. Asunción; Sobrido-Gómez, María-Jesús; López-Laso, Eduardo; Fons, Carme; Del Toro, Mireia; Macaya, Alfons; García-Cazorla, Ãngels; Ortiz-Martínez, Antonio José; Ignacio-Ortez, Carlos; Cáceres-Marzal, Cristina; Martínez-Salcedo, Eduardo; Mondragón, Elisabet; Barredo, Estíbaliz; Airaldi, Ileana Antón; Martínez, Javier Ruiz; Ramos, Joaquin A. Fernández; Vázquez, Juan Francisco; Díez-Porras, Laura; Vázquez-Cancela, María; O'Callaghan, Mar; Sánchez, Tamara Pablo; Nedkova, Velina; Pérez, Ana Isabel Maraéa
Genome Medicine. September 7, 2023, Vol. 15 Issue 1
Academic Journal
Sergi Cesar; Monica Coll; Victoria Fiol; Anna Fernandez-Falgueras; Jose Cruzalegui; Anna Iglesias; Isaac Moll; Alexandra Perez-Serra; Estefanía Martínez-Barrios; Carles Ferrer-Costa; Bernat del Olmo; Marta Puigmulè; Mireia Alcalde; Laura Lopez; Ferran Pico; Rubén Berrueco; Josep Brugada; Irene Zschaeck; Daniel Natera-de Benito; Laura Carrera-García; Jessica Exposito-Escudero; Carlos Ortez; Andrés Nascimento; Ramon Brugada; Georgia Sarquella-Brugada; Oscar Campuzano
Frontiers in Genetics, Vol 14 (2023)
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[검색어] Ortez, Carlos
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