All Stories

  1. Uncommon IFITM5 mutation associated with severe skeletal deformity in osteogenesis imperfecta

    Article • Annals of Human Genetics, July 2018, Wiley

    Dr Shahida Moosa

  2. Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome

    Article • Molecular Genetics & Genomic Medicine, July 2017, Wiley

    Dr Shahida Moosa

  3. Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation inIARS2

    Article • American Journal of Medical Genetics Part A, March 2017, Wiley

    Dr Shahida Moosa

  4. A novel homozygousPAM16mutation in a patient with a milder phenotype and longer survival

    Article • American Journal of Medical Genetics Part A, June 2016, Wiley

    Dr Shahida Moosa

  5. NovelIFT122mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum

    Article • American Journal of Medical Genetics Part A, January 2016, Wiley

    Dr Shahida Moosa