All Stories

  1. OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia

    Article • American Journal of Medical Genetics Part B Neuropsychiatric Genetics, October 2017, Wiley

    Miss Sali M.K. Farhan

  2. KMT2Dp.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection

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

    Sharan Goobie, Miss Sali M.K. Farhan

  3. Something old, something new:TBK1, a novel gene in known amyotrophic lateral sclerosis pathways

    Article • Clinical Genetics, July 2015, Wiley

    Miss Sali M.K. Farhan