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Symptoms, causative genes, and what you need for diagnosis — by disease.
Fragile X Syndrome: The FMR1 Mutation Hidden Behind Autism and Intellectual Disability2026. 04. 14
Episode 5 Amyotrophic Lateral Sclerosis (ALS) : Beyond the Variant2026. 04. 10
Williams-Beuren Syndrome: Clinical Features and Genetic Diagnosis Guide2026. 04. 03
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