BlogDiscover Insightful Articles on Rare Diseases

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• Genetic Mechanisms of GDD with Normal MRI: WES Strategies to End the Diagnostic Odyssey

  Insights | 26. 02. 10

• Prolonged Febrile Seizures and Developmental Plateau in a 7-Month-Old Infant: Beyond Simple Febrile Convulsions

  Rare disease series | 26. 02. 09

• Progressive Neurodevelopmental Regression and Refractory Epilepsy in a 36-Month-Old Female: A Clinical Correlation

  Rare disease series | 26. 02. 09

• Differential Diagnosis of Infantile Hypotonia: A Clinical Guide to Genetic Testing Integration

  Product | 26. 02. 06

• Beyond the Variant: Interpreting Genetic Diseases in the AI Era – Episode 1 — Charcot–Marie–Tooth Disease (CMT)

  Rare disease series | 26. 02. 05

• Beyond the Variant: Interpreting Genetic Diseases in the AI Era

  Rare disease series | 26. 02. 04

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