Now showing items 1-3 of 3

    • Growth and optical characterization of multilayers of InGaN quantum dots 

      Zhu, Tongtong; El-Ella, Haitham; Reid, Benjamin; Holmes, Mark; Taylor, Robert; Kappers, Menno Johannes; Oliver, Rachel Angharad (Journal of Crystal Growth, 2012-01-01)
    • Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood 

      Lewis-Smith, David; Kamer, Kimberli J; Griffin, Helen; Childs, Anne-Marie; Psyden, Karen; Titov, Denis; Duff, Jennifer et al. (Wolters Kluwer, 2016-03-03)
      Objective: To define the mechanism responsible for the fatigue, lethargy and weakness in two cousins who had a normal muscle biopsy. Methods: Exome sequencing, long-range PCR and Sanger sequencing to identify the pathogenic ...
    • Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease 

      Boczonadi, Veronika; King, Martin; Smith, Anthony Colin; Olahova, Monika; Bansagi, Boglarka; Roos, Andreas; Eyassu, Filmon et al.
      Purpose: Members of the mitochondrial carrier family (SLC25) transport metabolites, nucleotides, co-factors and inorganic ions across the mitochondrial inner membrane. Methods: We identified a pathogenic variant in a novel ...