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Symptoms, causative genes, and what you need for diagnosis — by disease.
Treacher Collins Syndrome: Identifying Genetic Causes via Advanced Sequencing2026. 05. 10
Episode 6 – Cornelia de Lange Syndrome (CdLS): Beyond the Variant2026. 04. 24
Marfan Syndrome: A Summary of Genetic Causes and Ghent Criteria2026. 04. 17
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