Now showing items 1-2 of 2

    Issue DateTitleAuthor(s)
    16 November 2016Novel homozygous missense mutation in GAN associated with Charcot-Marie-Toothdisease type 2 in a large consanguineousfamily from Israel  Aharoni, S; Barwick, KES; Harlalka, GV; et al.
    3 March 2018Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.  Salter, CG; Beijer, D; Hardy, H; et al.