BlogDiscover Insightful Articles on Rare Diseases

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• Diagnostic Yield of WES in Infantile HCM with Normal CMA: A Case of PTPN11-associated Noonan Syndrome

  Diagnostic story | 26. 02. 13

• Olivia’s story diagnosed with TFE3-related neurodevelopmental disorder

  Diagnostic story | 25. 09. 19

• Case of Cardio-facio-cutaneous syndrome: The Critical Role of Genetic Testing

  Diagnostic story | 24. 05. 03

• Type I Neurofibromatosis / NF1 intron case

  Diagnostic story | 23. 01. 04

• Wilson Disease: Diagnosis story

  Diagnostic story | 22. 10. 11

• Mowat-Wilson syndrome: diagnosis story

  Diagnostic story | 22. 09. 19

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