All Stories

  1. Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes

    Article • Case Reports in Genetics, November 2019, Hindawi Publishing Corporation

    Sajeewani Pathirana, Professor Vajira H. W. Dissanayake

  2. A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter

    Article • Case Reports in Pediatrics, July 2018, Hindawi Publishing Corporation

    Professor Vajira H. W. Dissanayake, Sajeewani Pathirana

  3. A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B)

    Article • Clinical Case Reports, April 2018, Wiley

    Sajeewani Pathirana