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
A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation
  • Gülçin Arslan
  • Sezer Acar
  • Taha Reşid Özdemir
  • Özlem Nalbantoğlu
  • Özgür Kırbıyık
  • Özge Köprülü
  • Beyhan Özkaya
  • Behzat Özkan
J Pediatr Res 2020; 7: 168-171 DOI: 10.4274/jpr.galenos.2019.36034
De Novo CHRNE Mutation: Congenital Myasthenic Syndrome
  • Hande Gazeteci Tekin
  • Sanem Yılmaz
  • Gül Aktan
  • Sarenur Gökben
J Pediatr Res 2019; 6: 356-358 DOI: 10.4274/jpr.galenos.2019.77045

Original Article

Evaluation of Resistance to Ciprofloxacin and Identification of Mutations in Topoisomerase Genes in Escherichia coli and Klebsiella pneumonia Isolated from Pediatric Urinary Tract Infections
  • Keyghobad Ghadiri
  • Alisha Akya
  • Azam Elahi
  • Somaye Jafari
  • Roya Chegenelorestani
J Pediatr Res 2019; 6: 322-328 DOI: 10.4274/jpr.galenos.2019.16362

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