Obrycki, Łukasz;

Jankowska, Irena:


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

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

Rojnueangnit, Kitiwan:


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

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

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

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

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?

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

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

Leavitt, Wendy L.;

Alex, Gijo;

Saynhalath, Rita;

Kiss, Edgar:


Endotracheal Intubation Using Alfentanil in a Pediatric Patient with a Mitochondrial Myopathy and Gastroparesis

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

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

Arora, Veronica;

Saxena, Renu;

Puri, Ratna Dua;

Verma, Ishwar Chander:


Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss

Gogus, Basak;

Kılıçarslan, Furkan;

Bukulmez, Aysegul;

Solak, Mustafa:


Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo’s B) Case Using Whole Exome Sequencing

Castillo Pinto, Carlos;

Gropman, Andrea L.:


Expanding Role of Proton Magnetic Resonance Spectroscopy: Timely Diagnosis and Treatment Initiation in Partial Ornithine Transcarbamylase Deficiency

Hall, Jennifer A.;

Anstadt, Erin;

Madan-Khetarpal, Suneeta;

Goldstein, Jesse A.;

Losee, Joseph E.:


A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis