DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 01 · Volume 10 · March 2021 DOI: 10.1055/s-011-50255

Reviewers' List

  • i

    Contributing Reviewers in 2020

    • Review Article

  • 001
    Wicher, Dorota; Obrycki, Łukasz; Jankowska, Irena:

    Autosomal Recessive Polycystic Kidney Disease—The Clinical Aspects and Diagnostic Challenges

    • Original Article

  • 009
    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

  • 016
    Boontan, Naiyana; Rojnueangnit, Kitiwan:

    Growth Patterns of Thai Children with Down Syndrome from Birth to 5 Years

    Supplementary Material (PDF)
  • 023
    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

  • 029
    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

  • 035
    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

  • 039
    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?

  • 045
    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

  • 049
    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

  • 053
    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

  • 057
    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

  • 063
    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

  • 070
    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

  • 074
    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

  • 077
    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

  • 081
    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