#case study
15 related articles.
Solving Undiagnosed Cases with Long-Read Sequencing (Part 1): Finding the Missing Variant in Autosomal Recessive Disease2026. 07. 22
Diagnostic Yield of WES in Infantile HCM with Normal CMA: A Case of PTPN11-associated Noonan Syndrome2026. 02. 13
Genetic Mechanisms of GDD with Normal MRI: WES Strategies to End the Diagnostic Odyssey2026. 02. 10
Prolonged Febrile Seizures and Developmental Plateau in a 7-Month-Old Infant: Beyond Simple Febrile Convulsions2026. 02. 09- Progressive Neurodevelopmental Regression and Refractory Epilepsy in a 36-Month-Old Female: A Clinical Correlation2026. 02. 09
Bringing a Nearly Missed Diagnosis Back Into Focus – How 3ASC Redefined Automated Reanalysis2025. 12. 23