All Stories

  1. Modulation of the GABAergic pathway for the treatment of fragile X syndrome
  2. Genomic studies in fragile X premutation carriers
  3. Treatment of Fragile X Syndrome and Fragile X-associated Disorders
  4. Association between macroorchidism and intelligence in FMR1 premutation carriers
  5. A Novel ZRS Mutation Leads to Preaxial Polydactyly Type 2 in a Heterozygous Form and Werner Mesomelic Syndrome in a Homozygous Form
  6. De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
  7. Targeted treatments in fragile X syndrome
  8. Association of β-Defensin 1 Single Nucleotide Polymorphisms with Atopic Dermatitis