학술논문
'학술논문'
에서 검색결과 390건 | 목록
1~10
Academic Journal
Morales-Romero, B.; Muñoz-Pujol, G.; Ribes, A.; García-Villoria, J.; Tort, F.; Artuch, R.; García-Cazorla, A.; O'Callaghan, M.; Campistol, J.; Sykut-Cegielska, J.; Moreno-Lozano, P.J.; Oud, M.M.; Wevers, R.A.; Lefeber, D.J.; Esteve-Codina, A.; Yepez, V.A.; Gagneur, J.; Prokisch, H.; Wortmann, S.B.
In: Molecular Genetics and Metabolism . (Molecular Genetics and Metabolism, July 2024, 142(3))
Academic Journal
Tost, A.; Romero, S.; Alonso, J.F.; Bachiller, A.; Serna, L.-Y.; Mañanas, M.Á.; Medina-Rivera, I.; García-Cazorla, Á.
In: Research in Developmental Disabilities . (Research in Developmental Disabilities, July 2024, 150)
Academic Journal
Tokatly Latzer, I.; DiBacco, M.L.; Tsuboyama, M.; Rotenberg, A.; Sahin, M.; Pearl, P.L.; Roullet, J.-B.; Gibson, K.M.; Afshar-Saber, W.; Lee, H.H.C.; McGinty, G.E.; Bertoldi, M.; Arning, E.; Opladen, T.; Jeltsch, K.; García-Cazorla, À.; Juliá-Palacios, N.
In: Journal of Neurodevelopmental Disorders . (Journal of Neurodevelopmental Disorders, December 2024, 16(1))
Academic Journal
Juliá-Palacios, N.; Sigatullina Bondarenko, M.; Medina-Rivera, I.; Colome, R.; Illescas, K.S.; Mari-Vico, R.; Duffo Viñas, M.; Oyarzábal, A.; García-Cazorla, A.; Olivella, M.; Ibáñez-Micó, S.; Cean Cabrera, L.; Muñoz-Cabello, B.; Alonso-Luengo, O.; Soto-Insuga, V.; González Alguacil, E.; García-Navas, D.; Cuesta-Herraiz, L.; Andreo-Lillo, P.; Aguilera-Albesa, S.; Hedrera-Fernández, A.; Sánchez-Carpintero, R.; Martín Del Valle, F.; Jimenez González, E.; Perez-Ordoñez, M.; Lopez, L.; Engracia Cazorla, M.; Fornaguera, M.; Ormazabal, A.; Alonso-Colmenero, I.; Balsells-Mejía, S.; Cappuccio, G.; Terrone, G.; Romano, R.; Manti, F.; Alfonsi, C.; Mastrangelo, M.; De Siqueira Barros, B.; Nizon, M.; Gjerulfsen, C.E.; Muro, V.L.; Karall, D.; Zeiner, F.; Masnada, S.; Peterlongo, I.; Santos-Gómez, A.; Altafaj, X.
In: Brain . (Brain, 1 May 2024, 147(5):1653-1666)
Academic Journal
Julia-Palacios, N.A.; Cortès-Saladelafont, E.; García-Cazorla, À.; Kuseyri Hübschmann, O.; Assmann, B.; Brennenstuhl, H.; Jung-Klawitter, S.; Jeltsch, K.; Garbade, S.F.; Opladen, T.; Olivella, M.; Pons, R.; Horvath, G.; Lücke, T.; Fung, C.-W.; Wong, S.-N.; Rovira-Remisa, M.M.; Yıldız, Y.; Sivri, H.S.; Mercimek-Andrews, S.; Stevanović, G.; Manti, F.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, May 2024, 47(3):447-462)
Academic Journal
Tokatly Latzer, I.; DiBacco, M.L.; Rotenberg, A.; Pearl, P.L.; Bertoldi, M.; Blau, N.; Elsea, S.H.; García-Cazorla, À.; Juliá-Palacios, N.; Gibson, K.M.; Roullet, J.-B.; Gropman, A.L.; Hanson, E.; Lee, H.H.C.; Hoffman, C.; McConnell, A.; Jeltsch, K.; Opladen, T.; Knerr, I.; Malaspina, P.; Oppebøen, M.; Walterfang, M.; Wang-Tso, L.; Wevers, R.A.
In: Molecular Genetics and Metabolism . (Molecular Genetics and Metabolism, May 2024, 142(1))
Academic Journal
Jung-KC, K.; Altankhuyag, A.; Prestegård, K.S.; Martinez, A.; Tristán-Noguero, A.; Sigatulina Bondarenko, M.; García-Cazorla, A.; Piñol Belenguer, D.; Fernandez-Carasa, I.; Colini Baldeschi, A.; Consiglio, A.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, May 2024, 47(3):494-508)
Academic Journal
Illescas, S.; Diaz-Osorio, Y.; Serradell, A.; Toro-Soria, L.; Musokhranova, U.; Juliá-Palacios, N.; Ribeiro-Constante, J.; O'Callaghan, M.; Darling, A.; García-Cazorla, À.; Oyarzábal, A.; Altafaj, X.; Olivella, M.; Armstrong, J.; Artuch, R.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, May 2024, 47(3):551-569)
Academic Journal
Yıldız, Y.; Sivri, S.; Kuseyri Hübschmann, O.; Hoffmann, G.F.; Jeltsch, K.; Opladen, T.; Akgöz Karaosmanoğlu, A.; Manti, F.; Leuzzi, V.; Karaca, M.; Balcı, M.C.; Gökçay, G.; Schwartz, I.V.D.; Medeiros, L.S.; Pons, R.; López-Laso, E.; Palacios, N.A.J.; García-Cazorla, A.; Porta, F.; Kavecan, I.; Dy-Hollins, M.E.; Wong, S.-N.; Oppebøen, M.; de Paula, L.C.P.; Hübschmann, D.; Harting, I.; Özön, Z.A.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, May 2024, 47(3):431-446)
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
Academic Journal
Cascajo-Almenara, M.V.; Urreizti, R.; Sánchez-Cuesta, A.; Fernández-Ayala, D.M.; Nascimento, A.; Palau, F.; Yubero, D.; García-Cazorla, A.; Santos-Ocaña, C.; Artuch, R.; Juliá-Palacios, N.; Oliva, C.; O´Callaghan, M.D.M.; Muchart, J.; Ortez, C.I.; Natera-de Benito, D.; Pineda, M.; Rivera, N.; García-Díaz, E.; Navas, P.; Paredes-Fuentes, A.J.; Moreno-Lozano, P.J.; Fortuna, T.R.; Rajan, D.S.; Pandey, U.B.; Salviati, L.
In: European Journal of Human Genetics . (European Journal of Human Genetics, April 2024, 32(4):426-434)
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[AR] Garciá-Cazorla, Á.
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