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2015
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol (GPI) deficiencies.Ilkovski, B., Pagnamenta AT, O'Grady GL, Kinoshita T., Howard MF, Lek M., Thomas B., Turner A., Christodoulou J., Sillence D., Knight SJ, Popitsch N., Keays DA, Anzilotti C., Goriely A., Waddell LB, Brilot F., North KN, Kanzawa N., Macarthur DG, et al. Human molecular genetics, 2015/08/20, (2015) Read More / View Supplemental Materials
Abstract
2011
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.Tucker, EJ, Hershman SG, Köhrer C., Belcher-Timme CA, Patel J., Goldberger OA, Christodoulou J., Silberstein JM, McKenzie M., Ryan MT, Compton AG, Jaffe JD, Carr SA, Calvo SE, RajBhandary UL, Thorburn DR, and Mootha VK Cell metabolism, 2011/09/07, Volume 14, Issue 3, p.428-34, (2011) Read More / View Supplemental Materials
Abstract
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