Background The signal transducer and activator of transcription 6 (STAT6) signaling
pathway plays a central role in allergic inflammation. To date, however, there have been no …

Objectives To characterize phenotype and genotype of amelogenesis imperfecta (AI) in a
Thai patient, and review of literature. Materials and methods Variants were identified using …

Introduction Rare diseases (RD) are a health priority worldwide, overall affecting hundreds
of millions of people globally. Early and accurate diagnosis is essential to support clinical …

Pharmacoresistant epilepsy presenting during infancy poses both diagnostic and
therapeutic challenges. We aim to identify diagnostic yield and treatment implications of …

Background Severe acute respiratory syndrome coronavirus 2 vaccination reduces
morbidity and mortality associated with coronavirus disease 2019 (COVID-19); …

KCTD1 plays crucial roles in regulating both the SHH and WNT/β-catenin signaling
pathways, which are essential for tooth development. The objective of this study was to …

Mutations in KCNQ2 encoding for voltage-gated K channel subunits underlying the neuronal
M-current have been associated with infantile-onset epileptic disorders. The clinical …

Truncus Arteriosus (TA) is a congenital heart disease characterized by a single common
blood vessel emerging from the right and left ventricles instead of the main pulmonary artery …

Objectives To identify etiologic variants and perform deep dental phenoty** in patients
with amelogenesis imperfecta (AI). Methods Three patients of two unrelated families were …

Inter-individual variability in drug responses is significantly influenced by genetic factors,
underscoring the importance of population-specific pharmacogenomic studies to optimize …