#case study
15 related articles.
3billion Re-analysis Part 3: Clinical Updates Expand Diagnosis – Case Sharing2025. 12. 03
Olivia’s story diagnosed with TFE3-related neurodevelopmental disorder2025. 09. 19
Reanalysis in Genetic Testing: Three Case Studies That Changed Patient Outcomes2025. 09. 03
Case of Cardio-facio-cutaneous syndrome: The Critical Role of Genetic Testing2024. 05. 03
Diagnosing Myotonic Dystrophy: A Case of Cryptorchidism and Muscle Weakness2023. 01. 04
Type I Neurofibromatosis / NF1 intron case2023. 01. 04