Original Article

A Novel Molecular Indicator for Inhibitor Development in Haemophilia A
  • Esra Işık
  • Humay Mehdiyeva
  • Bilçağ Akgün
  • Timur Köse
  • Kaan Kavaklı
  • Ferda Özkınay
  • Tahir Atik
J Pediatr Res 2021; 8: 102-109 DOI: 10.4274/jpr.galenos.2020.59354

Case Report

A Novel De Novo Missense Mutation in HNF4A Resulting in Sulfonylurea-Responsive Maturity-onset Diabetes of the Young
  • Sezer Acar
  • Ayhan Abacı
  • Korcan Demir
  • Taha Reşid Özdemir
  • Berk Özyılmaz
  • Ece Böber
J Pediatr Res 2018; 5: 156-160 DOI: 10.4274/jpr.60252
A Novel Missense Variant c.125G>A on Exon 3- Presenting as Neonatal Purpura Fulminans with Persisting Fetal Vasculature
  • Ajeesh Babu
  • Riaz I
  • Sankar Hariharan
J Pediatr Res 2023; 10: 294-296 DOI: 10.4274/jpr.galenos.2023.68466