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JOURNAL OF PEDIATRIC GENETICS
Official Journal of the World Pediatric Society, Turkiye
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Reviewers' List
Contributing Reviewers in 2020
Review Article
Wicher, Dorota; Obrycki, Łukasz; Jankowska, Irena:
Autosomal Recessive Polycystic Kidney Disease—The Clinical Aspects and Diagnostic Challenges
Original Article
Inandiklioğlu, Nihal; Yaşar, Adem:
Association between rs1421085 and rs9939609 Polymorphisms of Fat Mass and Obesity-Associated Gene with High-Density Lipoprotein Cholesterol and Triglyceride in Obese Turkish Children and Adolescents
Boontan, Naiyana; Rojnueangnit, Kitiwan:
Growth Patterns of Thai Children with Down Syndrome from Birth to 5 Years
Nerakh, Gayatri; Ranganath, Prajnya; Murugan, Sakthivel:
Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum
Khaeso, Kanyarat; Nakkam, Nontaya; Komwilaisak, Patcharee; Wongmast, Piyathida; Chainansamit, Su-on; Dornsena, Areerat; Kanjanawart, Sirimas; Vannaprasaht, Suda; Tassaneeyakul, Wichittra:
Genetic Polymorphisms of Drug-Metabolizing Enzymes Involved in 6-Mercaptopurine-Induced Myelosuppression in Thai Pediatric Acute Lymphoblastic Leukemia Patients
Case Report
Williams, Jason L.; McDonald, Marie T.; Seifert, Bryce A.; Deak, Kristen L.; Rehder, Catherine W.; Campbell, Michael J.:
An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome
Teles-Silva, Cláudia; Martins, Francisca; Costa, Sandra; Soares, Paulo; Rocha, Gustavo; Flor-de-Lima, Filipa; Pinto, Helena; Ramalho, Carla; Oliveira, Renata; Brandão, Otília; Guimarães, Hercília:
Renal Dysplasia and Progressive Renal Failure in a Newborn with Interstitial Chromosome 4 Deletion 4q25-28.3: A New Phenotype?
Diniz, Bruna Lixinski; Glaeser, Andressa Barreto; Deconte, Desirée; Guaraná, Bruna Baierle; Rosa, Rafael Fabiano Machado; Zen, Paulo Ricardo Gazzola:
Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case
Bruni, Valentina; Scozzafava, Cristina; Gnazzo, Maria; Parisi, Francesca; Sestito, Simona; Pensabene, Licia; Novelli, Antonio; Concolino, Daniela:
Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome
Mehta, Sonia D.; Leavitt, Wendy L.; Alex, Gijo; Saynhalath, Rita; Kiss, Edgar:
Endotracheal Intubation Using Alfentanil in a Pediatric Patient with a Mitochondrial Myopathy and Gastroparesis
Iezzi, Maria Laura; Varriale, Gaia; Zagaroli, Luca; Lasorella, Stefania; Greco, Marco; Iapadre, Giulia; Verrotti, Alberto:
A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature
Deconte, Desirée; Correia, Elisa Pacheco Estima; Haubert, Géssica; de Souza, Vinicius; Correia, Jamile Dutra; Maahs, Marcia Angelica Peter; Zen, Paulo Ricardo Gazzola; Fiegenbaum, Marilu; Rosa, Rafael Fabiano Machado:
Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism
Lallar, Meenakshi; Arora, Veronica; Saxena, Renu; Puri, Ratna Dua; Verma, Ishwar Chander:
Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss
Elmas, Muhsin; Gogus, Basak; Kılıçarslan, Furkan; Bukulmez, Aysegul; Solak, Mustafa:
Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing
Sen, Kuntal; Castillo Pinto, Carlos; Gropman, Andrea L.:
Expanding Role of Proton Magnetic Resonance Spectroscopy: Timely Diagnosis and Treatment Initiation in Partial Ornithine Transcarbamylase Deficiency
Marji, Fady P.; Hall, Jennifer A.; Anstadt, Erin; Madan-Khetarpal, Suneeta; Goldstein, Jesse A.; Losee, Joseph E.:
A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis