Case Report

“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages
  • Asburçe Olgaç
  • Leyla Tümer
  • Serdar Ceylaner
  • Gürsel Biberoğlu
  • Alev Hasanoğlu
J Pediatr Res 2018; 5: 47-50 DOI: 10.4274/jpr.55477

Review

Juvenile Myelomonocytic Leukemia (JMML)
  • Barbaros Şahin Karagün
  • İlgen Şaşmaz
  • Bülent Antmen
  • Yurdanur Kılınç
J Pediatr Res 2014; 1: 118-126 DOI: 10.4274/jpr.09797

Case Report

A Novel Mutation in Fanconi Bickel Syndrome Diagnosed in the Neonatal Period
  • Şükran Keskin Gözmen
  • Kıymet Çelik
  • Şebnem Çalkavur
  • Erkin Serdaroğlu
J Pediatr Res 2019; 6: 155-157 DOI: 10.4274/jpr.galenos.2018.58561
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

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