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2015
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.Riley, LG, Rudinger-Thirion J., Schmitz-Abe K., Thorburn DR, Davis RL, Teo J., Arbuckle S., Cooper ST, Campagna DR, Frugier M., Markianos K., Sue CM, Fleming MD, and Christodoulou J. JIMD reports, 2015/11/05, (2015) Read More / View Supplemental Materials
Abstract
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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