Now showing items 1-2 of 2

    Issue DateTitleAuthor(s)
    7 October 2013Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis  Harlalka, GV; Lehman, A; Chioza, B; et al.
    12 June 2015Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73  Jinks, RN; Puffenberger, EG; Baple, Emma Louise; et al.