Articles

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

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

A Negative Correlation Between MEFV Mutations and Allergic Diseases

Malik Ejder Yıldırım
Hande Küçük Kurtulgan
Hasan Kılıçgün
Fatma Duksal

J Pediatr Res 2022; 9: 132-137 DOI: 10.4274/jpr.galenos.2021.33407

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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