All Stories

  1. The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach
  2. Methadone use in a male with theFMRIpremutation and FXTAS
  3. A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment
  4. Fragile X-Associated Disorders
  5. Modulation of the GABAergic pathway for the treatment of fragile X syndrome
  6. Genomic studies in fragile X premutation carriers
  7. Treatment of Fragile X Syndrome and Fragile X-associated Disorders
  8. Association between macroorchidism and intelligence in FMR1 premutation carriers
  9. A Novel ZRS Mutation Leads to Preaxial Polydactyly Type 2 in a Heterozygous Form and Werner Mesomelic Syndrome in a Homozygous Form
  10. De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
  11. Targeted treatments in fragile X syndrome
  12. Parent-delivered touchscreen intervention for children with fragile X syndrome
  13. Addictive substances may induce a rapid neurological deterioration in fragile X-associated tremor ataxia syndrome: A report of two cases
  14. Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome
  15. Fragile X spectrum disorders
  16. Translational research guided by animal studies in Fragile X Disorders
  17. Participation of underrepresented minority children in clinical trials for Fragile X syndrome and other neurodevelopmental disorders
  18. Association of β-Defensin 1 Single Nucleotide Polymorphisms with Atopic Dermatitis