#disease mechanism
28 related articles.
Episode 3 Ehlers-Danlos Syndrome (EDS): Beyond the Variant2026. 03. 13
Episode 2 — GNAS-Related Disorders: Beyond the Variant2026. 02. 25
Episode 1 — Charcot–Marie–Tooth Disease (CMT): Beyond the Variant2026. 02. 05
Women and Rare Diseases: The Critical Role of Genetic Testing2025. 03. 06
Types of Pathogenic Variants in Rare Diseases and Their Diagnosis2024. 09. 01
Hypertrophic Cardiomyopathy: The Impact of ALPK3 Gene Mutations2024. 07. 30