학술논문
'학술논문'
에서 검색결과 116건 | 목록
1~10
Academic Journal
Behin, Anthony; Boentert, Matthias; Carvalho, Gerson; Chahin, Nizar; Charrow, Joel; Deegan, Patrick; Durmus Tekce, Hacer; Duval, Fanny; Genge, Angela; Gutmann, Ludwig; Henderson, Robert D; Hennermann, Julia B; Hiwot, Tarekegn; Hughes, Derralynn; Karaa, Amel; Karam, Chafic; Kautzky-Willer, Alexandra; Komaki, Hirofumi; Laforet, Pascal; Longo, Nicola; Malinova, Vera; Maré, Ricardo; Maxit, Clarisa; Mengel, Eugen; Moggio, Maurizio Gualtiero; Molnár, Mária Judit; Mongini, Tiziana Enrica; Nadaj-Pakleza, Aleksandra; Nascimento Osorio, Andres; Noury, Jean-Baptiste; Oliveira, Acary Souza Bulle; Parman, Yesim; Pena, Loren; Remiche, Gauthier; Sciacco, Monica; Shieh, Perry B; Smith, Cheryl; Stulnig, Thomas; Taithe, Frederic; Tard, Céline; Tarnopolsky, Mark; Vorgerd, Matthias; Whitley, Chester; Young, Peter; Alonso-Pérez, Jorge; Altemus, Patricia; Aubé-Nathier, Anne-Catherine; Avelar, Jennifer B; Bailey, Carrie; Bekircan-Kurt, Can Ebru; Billy, Jenny; Boschi, Silvia; Brown, Kathryn E; Carrera Garcia, Laura; Chase, Lauren; Cirne, Hamilton; Danjoux, Loïc; Davion, Jean-Baptiste; DeArmey, Stephanie; Fedotova, Ekaterina; Gandolfo, Eve; Grosz, Zoltan; Guellec, Dewi; Guettsches, Anne-Katrin; Guglieri, Michela; Hatcher, Erin; Helms, Sina; Hufgard-Leitner, Miriam; Klyushnikov, Sergey A.; Langton, Jacqui; Linková, Lenka; Mavroudakis, Nicolas; Mazurová, Stella; Mori, Madoka; Müller-Miny, Louisa; Musumeci, Olimpia; Nance, Christopher S; Natera-de Benito, Daniel; Neel, Robert; Niizawa, Gabriela A; Noll, Lauren; Ortega, Erik; Pasnoor, Mamatha; Pautot, Vivien; Potulska-Chromik, Anna; Pugliese, Alessia; Questienne, Claire; Ramos Lopes, Margarida; Reyes-Leiva, David; Riedl, Michaela; Rugiero, Marcelo Francisco; Salort-Campana, Emmanuelle; Sgobbi Souza, Paulo Victor; Sole, Guilhem; Solera, Luca; Souto Lopes, Suzara; Specht, Sabine; Statland, Jeffrey; Swenson, Andrea; Tan, Chong Yew; Tizon, Sónia; van der Beek, N A M E; van Kooten, Harmke A.; Wencel, Marie; Wenninger, Stephan; Zagnoli, Fabien; Diaz-Manera, Jordi ; Kishnani, Priya S ; Kushlaf, Hani; Ladha, Shafeeq; Mozaffar, Tahseen; Straub, Volker; Toscano, Antonio; van der Ploeg, Ans T; Berger, Kenneth I; Clemens, Paula R; Chien, Yin-Hsiu; Day, John W; Illarioshkin, Sergey; Roberts, Mark; Attarian, Shahram; Borges, Joao Lindolfo; Bouhour, Francoise; Choi, Young Chul; Erdem-Ozdamar, Sevim; Goker-Alpan, Ozlem; Kostera-Pruszczyk, Anna; Haack, Kristina An; Hug, Christopher; Huynh-Ba, Olivier; Johnson, Judith; Thibault, Nathan; Zhou, Tianyue; Dimachkie, Mazen M ; Schoser, Benedikt
In The Lancet Neurology December 2021 20(12):1012-1026
Academic Journal
Carrera-García, Laura; Muchart, Jordi; Lazaro, Juan José; Expósito-Escudero, Jessica; Cuadras, Daniel; Medina, Julita; Bosch de Basea, Magda; Colomer, Jaume; Jimenez-Mallebrera, Cecilia; Ortez, Carlos; Natera-de Benito, Daniel; Nascimento, Andrés
In European Journal of Paediatric Neurology March 2021 31:92-101
Academic Journal
Codina, Anna; Roldán, Mònica; Natera-de Benito, Daniel; Ortez, Carlos; Planas, Robert; Matalonga, Leslie; Cuadras, Daniel; Carrera, Laura; Exposito, Jesica; Marquez, Jesus; Jimenez-Mallebrera, Cecilia; M. Porta, Josep; Nascimento, Andres; Jou, Cristina
Academic Journal
Jou, Cristina; Nascimento, Andres; Codina, Anna; Montoya, Julio; López-Gallardo, Ester; Emperador, Sonia; Ruiz-Pesini, Eduardo; Montero, Raquel; Natera-de Benito, Daniel; Ortez, Carlos I.; Marquez, Jesus; Zelaya, Maria V.; Gutierrez-Mata, Alfonso; Badosa, Carmen; Carrera-García, Laura; Expósito-Escudero, Jesica; Roldán, Monica; Camara, Yolanda; Marti, Ramon; Ferrer, Isidre
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
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
Academic Journal
Cascajo-Almenara, Marivi V.; Julia-Palacios, Natalia.; Urreizti, Roser; Sanchez-Cuesta, Ana; Fernandez-Ayala, Daniel M.; Garcia-Diaz, 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, Placido; Salviati, Leonardo; Palau, Francesc; Yubero, Delia; Garcia-Cazorla, Angels; Pandey, Udai Bhan; Santos-Ocana, Carlos; Artuch, Rafael
Academic Journal
López-Márquez, Arístides; Morín, Matías; Fernández-Peñalver, Sergio; Badosa, Carmen; Hernández-Delgado, Alejandro; Natera-de Benito, Daniel; Ortez, Carlos; Nascimento, Andrés; Grinberg, Daniel; Balcells, Susanna; Roldán, Mónica; Moreno-Pelayo, Miguel Ángel; Jiménez-Mallebrera, Cecilia
Periodical
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: EJHG; April 2024, Vol. 32 Issue: 4 p426-434, 9p
Academic Journal
Natera‐de Benito, Daniel; Olival, Jonathan; Garcia‐Cabau, Carla; Jou, Cristina; Roldan, Mònica; Codina, Anna; Expósito‐Escudero, Jessica; Batlle, Cristina; Carrera‐García, Laura; Ortez, Carlos; Salvatella, Xavier; Palau, Francesc; Nascimento, Andrés; Hoenicka, Janet
Academic Journal
Trifunov, Selena; Natera-de Benito, Daniel; Carrera-García, Laura; Codina, Anna; Expósito-Escudero, Jesica; Ortez, Carlos; Medina, Julita; Torres Alcala, Soraya; Bernal, Sara; Alias, Laura; Badosa, Carmen; Balsells, Sol; Alcolea, Daniel; Nascimento, Andres; Jimenez-Mallebrera, Cecilia
Journal of Neuromuscular Diseases; 2023, Vol. 10 Issue 4, p653-665, 13p
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