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المؤلفون: Andrés Nascimento, Jaume Colomer, C. Jiménez–Mallabrera, L. Turon, M. Pineda, A. García-Ribes, Juliane Müller, J. Mihaylova, Hanns Lochmüller, Carlos Ortez
المصدر: Neuromuscular Disorders. 18:748
مصطلحات موضوعية: RAPSN, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Cancer research, Medicine, In patient, Neurology (clinical), business, Phenotype, Genetics (clinical), Early onset
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fc88820f6843a58cad2749258ff65dd3Test
https://doi.org/10.1016/j.nmd.2008.06.085Test -
2مؤتمر
المؤلفون: Thompson, K, Mai, N, Olahova, M, Scialo, F, Formosa, LE, Stroud, DA, Garett, M, Lax, NZ, Jou, C, Nascimento, A, Ortez, C, Jimenez-Mallabrera, C, Hardy, SA, He, L, Brown, GK, Marttinen, P, McFarland, R, Sanz, A, Battersby, BJ, Bonnen, PE, Ryan, MT, Chrzanowska-Lightowlers, ZMA, Lightowlers, RN, Taylor, RW
المساهمون: K. Thompson, N. Mai, M. Olahova, F. Scialo, LE. Formosa, DA Stroud, M. Garett, NZ. Lax, C. Jou, A. Nascimento, C. Ortez, C. Jimenez-Mallabrera, SA Hardy, L. He, GK. Brown, P. Marttinen, R. McFarland, A. Sanz, BJ Battersby, PE Bonnen, MT. Ryan, ZMA. Chrzanowska-Lightowlers, RN. Lightowlers, RW. Taylor., Thompson, K, Mai, N, Olahova, M, Scialo, F, Formosa, Le, Stroud, Da, Garett, M, Lax, Nz, Jou, C, Nascimento, A, Ortez, C, Jimenez-Mallabrera, C, Hardy, Sa, He, L, Brown, Gk, Marttinen, P, Mcfarland, R, Sanz, A, Battersby, Bj, Bonnen, Pe, Ryan, Mt, Chrzanowska-Lightowlers, Zma, Lightowlers, Rn, Taylor, Rw
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000432769200101; ispartofbook:Biallelic mutations in Oxa1l cause a mitochondrial encephalopathy and combined oxidative phosphorylation dysfunction; volume:28; firstpage:S34; lastpage:S34; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11591/431751Test
الإتاحة: https://doi.org/10.1016/S0960-8966Test(18)30392-4
http://hdl.handle.net/11591/431751Test