Items where Author is "Hardy, SA"

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

Alston, CL, Howard, C, Olahova, M, Hardy, SA, He, L, Murray, PG, O'Sullivan, S, Doherty, G, Shield, JPH, Hargreaves, IP, Monavari, AA, Knerr, I, McCarthy, P, Morris, AAM, Thorburn, DR, Prokisch, H, Clayton, PE, McFarland, R, Hughes, J, Crushell, E et al (2016) A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. Journal of Medical Genetics (JMG), 53 (9). pp. 634-641. ISSN 0022-2593