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Diagnostic Yield of WES in Infantile HCM with Normal CMA: A Case of PTPN11-associated Noonan Syndrome2026. 02. 13
Duo / Trio Analysis, Now as Fast as Proband-only Analysis2026. 02. 12
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
Differential Diagnosis of Infantile Hypotonia: A Clinical Guide to Genetic Testing Integration2026. 02. 06