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Symptoms, causative genes, and what you need for diagnosis — by disease.
Episode 4 Bardet-Biedl Syndrome (BBS): Beyond the Variant2026. 03. 27
Episode 3 Ehlers-Danlos Syndrome (EDS): Beyond the Variant2026. 03. 13
Episode 2 — GNAS-Related Disorders: Beyond the Variant2026. 02. 25
Prolonged Febrile Seizures and Developmental Plateau in a 7-Month-Old Infant: Beyond Simple Febrile Convulsions2026. 02. 09- Progressive Neurodevelopmental Regression and Refractory Epilepsy in a 36-Month-Old Female: A Clinical Correlation2026. 02. 09
Episode 1 — Charcot–Marie–Tooth Disease (CMT): Beyond the Variant2026. 02. 05