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Items where Author is "Rahman, S"

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Number of items: 6.

Horga, A, Woodward, CE, Mills, A, Pare├ęs, 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

Othman, NAF, Rahman, S, Wan Muhamad Hatta, S, Soin, N, Benbakhti, B and Duffy, S (2019) Design Optimization of the graded AlGaN/GaN HEMT device performance based on material and physical dimensions. Microelectronics International, 36 (2). pp. 73-82. ISSN 1356-5362

McKiernan, P, Ball, S, Santra, S, Foster, K, Fratter, C, Poulton, J, Craig, K, McFarland, R, Rahman, S, Hargreaves, IP, Gupte, G, Sharif, K and Taylor, RW (2016) Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure. Journal of Pediatric Gastroenterology and Nutrition, 63 (6). pp. 592-597. ISSN 0277-2116

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

Foley, AR, Menezes, MP, Pandraud, A, Gonzalez, MA, Al-Odaib, A, Abrams, AJ, Sugano, K, Yonezawa, A, Manzur, AY, Burns, J, Hughes, I, McCullagh, BG, Jungbluth, H, Lim, MJ, Lin, J-P, Megarbane, A, Urtizberea, JA, Shah, AH, Antony, J, Webster, R , Broomfield, A, Ng, J, Mathew, AA, O'Byrne, JJ, Forman, E, Scoto, M, Prasad, M, O'Brien, K, Olpin, S, Oppenheim, M, Hargreaves, IP, Land, JM, Wang, MX, Carpenter, K, Horvath, R, Straub, V, Lek, M, Gold, W, Farrell, MO, Brandner, S, Phadke, R, Matsubara, K, McGarvey, ML, Scherer, SS, Baxter, PS, King, MD, Clayton, P, Rahman, S, Reilly, MM, Ouvrier, RA, Christodoulou, J, Zuechner, S, Muntoni, F and Houlden, H (2013) Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137 (1). pp. 44-56. ISSN 1460-2156

Uusimaa, J, Evans, J, Smith, C, Butterworth, A, Craig, K, Ashley, N, Liao, C, Carver, J, Diot, A, Macleod, L, Hargreaves, IP, Al-Hussaini, A, Faqeih, E, Asery, A, Al Balwi, M, Eyaid, W, Al-Sunaid, A, Kelly, D, van Mourik, I, Ball, S , Jarvis, J, Mulay, A, Hadzic, N, Samyn, M, Baker, A, Rahman, S, Stewart, H, Morris, AAM, Seller, A, Fratter, C, Taylor, RW and Poulton, J (2013) Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. European Journal of Human Genetics, 22 (2). pp. 184-191. ISSN 1018-4813

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