All Stories

  1. Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome
  2. A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions
  3. A novel Xp22.13 microdeletion in Nance-Horan syndrome
  4. Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience
  5. Surgical results of cranioplasty with a polymethylmethacrylate customized cranial implant in pediatric patients: a single-center experience
  6. Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipoma
  7. Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population