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Real cases of rare disease diagnosis.
Diagnostic Yield of WES in Infantile HCM with Normal CMA: A Case of PTPN11-associated Noonan Syndrome2026. 02. 13
Olivia’s story diagnosed with TFE3-related neurodevelopmental disorder2025. 09. 19
Case of Cardio-facio-cutaneous syndrome: The Critical Role of Genetic Testing2024. 05. 03
Type I Neurofibromatosis / NF1 intron case2023. 01. 04
Wilson Disease: Diagnosis story2022. 10. 11
Mowat-Wilson syndrome: diagnosis story2022. 09. 19