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Symptoms, causative genes, and what you need for diagnosis — by disease.
Episode 8: Lysosomal Storage Disorders (LSD) — Beyond Variant Interpretation2026. 05. 29
Could Your Patient’s Unexplained Joint Dislocations Be EDS? | EDS Awareness Month, May 2026 2026. 05. 14
Episode 7: Prader-Willi and Angelman Syndromes — Beyond the Variant 2026. 05. 14
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