As prenatal exome sequencing becomes integrated into clinical care, it is critical that
providers caring for women with fetal anomalies recognize not only the benefits, but also the …

Genetic testing for prenatal diagnosis in the pre-genomic era primarily focused on detecting
common fetal aneuploidies, using methods that combine maternal factors and imaging …

Objective Diagnostic pitfalls often arise in the community because of potentially misleading
similarities between juvenile idiopathic arthritis (JIA) and Blau syndrome, an immune-related …

Background/Objectives Exome sequencing may identify pathogenic variants unrelated with
the purpose of the analysis. We investigated the frequency of secondary and incidental …

Introduction Diseases caused by lysosomal dysfunction often exhibit multisystemic
involvement, resulting in substantial morbidity and mortality. Ensuring accurate diagnoses …

Introduction: Nowadays, the diagnostic rate of childhood epilepsies is increasing rapidly in
parallel with the advances in genetic technology. In this study, it was aimed to reveal the …

Rare diseases, even though defined as fewer than 20,000 in South Korea, with over 8,000
rare Mendelian disorders having been identified, they collectively impact 6-8% of the global …

Les progrès des technologies de séquençage ont joué un rôle important dans le diagnostic
moléculaire des maladies rares, telles que les myopathies et les dystrophies musculaires …

As doenças raras são um grupo amplo e diverso de entidades clínicas, 80% das quais
apresenta etiologia genética. A elucidação etiológica é fundamental para o manejo clínico …

Background and purpose: Although many neurological diseases are caused by genetic
variation, they are often difficult to diagnose because of their enormous molecular and …