#disease mechanism
32 related articles.
Episode 15: Homocystinuria — Causative Genes and How to Tell Them Apart2026. 09. 18
Episode 14: The Cause of Inherited Macular Degeneration and ABCA42026. 09. 04
Episode 13: CADASIL vs. CARASIL: What Differs in Genetic Interpretation?2026. 08. 21
Episode 12: Marfan Syndrome — Why Does a Single FBN1 Variant Cause Systemic Disease?2026. 08. 07
Achondroplasia in Children: From the FGFR3 Mutation to Voxzogo, the First Targeted Therapy2026. 07. 24
Episode 11: [Rubinstein-Taybi Syndrome] Broad Thumbs, Developmental Delay, and Everything About “Transcriptional Disorders”2026. 07. 16