Facial reconstruction

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Items where Author is "Quinlivan, R"

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Poole, OV, Hardy, SA, Bugiardini, E, Woodward, CE, Hargreaves, IP, Merve, A, Quinlivan, R, Taylor, RW, Hanna, MG and Pitceathly, RDS (2020) Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA Gly ( MT-TG ) variant. Neurology Genetics, 6 (2). ISSN 2376-7839

Bugiardin, E, Bottani, E, Marchet, S, Poole, OV, Beninca, C, Horga, A, Woodward, C, Lam, A, Hargreaves, IP, Chalasani, A, Valerio, A, Lamantea, E, Venner, K, Holton, JL, Zeviani, M, Houlden, H, Quinlivan, R, Lamperti, C, Hanna, MG and Pitceathly, RDS (2020) Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations. Neurology Genetics, 6 (1). ISSN 2376-7839

Bugiardini, E, Mitchell, AL, Rosa, ID, Horning-Do, H-T, Pitmann, AM, Poole, OV, Holton, JL, Shah, S, Woodward, C, Hargreaves, IP, Quinlivan, R, Amunts, A, Wiesner, RJ, Houlden, H, Holt, IJ, Hanna, MG, Pitceathly, RDS and Spinazzola, A (2019) MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. Human Molecular Genetics. ISSN 0964-6906

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