Items where Author is "Baptista-Junior, S"
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Cotta, A, Alston, CL, Baptista-Junior, S, Paim, JF, Carvalho, E, Navarro, MM, Appleton, M, Shiau Ng, Y, Valicek, J, da-Cunha-Junior, AL, Lima, MI, de la Rocque Ferreira, A, Takata, RI, Hargreaves, IP, Gorman, GS, McFarland, R, Pierre, G and Taylor, RW (2020) Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion. JIMD Reports. ISSN 2192-8312