Items where Author is "O'Sullivan, S"
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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 and Taylor, RW (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