Facial reconstruction

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Items where Author is "Brown, GK"

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Article

Horga, A, Woodward, CE, Mills, A, Pareés, I, Hargreaves, IP, Brown, RM, Bugiardini, E, Brooks, T, Manole, A, Remzova, E, Rahman, S, Reilly, MM, Houlden, H, Sweeney, MG, Brown, GK, Polke, JM, Gago, F, Parton, MJ, Pitceathly, RDS and Hanna, MG (2019) Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair. Human Genetics, 138 (11-12). pp. 1313-1322. ISSN 0340-6717

Lax, NZ, Alston, CL, Schon, K, Park, S-M, Krishnakumar, D, He, L, Falkous, G, Ogilvy-Stuart, A, Lees, C, King, RH, Hargreaves, IP, Brown, GK, McFarland, R, Dean, AF and Taylor, RW (2015) Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. Journal of Neuropathology and Experimental Neurology, 74 (7). pp. 688-703. ISSN 0022-3069

Ferdinandusse, S, Waterham, HR, Heales, SJR, Brown, GK, Hargreaves, IP, Taanman, J-W, Gunny, R, Abulhoul, L, Wanders, RJA, Clayton, PT, Leonard, JV and Rahman, S (2013) HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. Orphanet Journal of Rare Diseases, 188. ISSN 1750-1172

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