BlogDiscover Insightful Articles on Rare Diseases
Sookjin Lee
Expert in integrating cutting-edge genomic healthcare technologies with market needs. With 15+ years of experience, driving impactful changes in global healthcare.
[Clinical Review] Why WGS Achieves up to 44.4% Diagnostic Yield in NDD: Insights from a 100-Family Italian Study
Insights | 26. 02. 20
Diagnostic Yield of WES in Infantile HCM with Normal CMA: A Case of PTPN11-associated Noonan Syndrome
Diagnostic story | 26. 02. 13
Genetic Mechanisms of GDD with Normal MRI: WES Strategies to End the Diagnostic Odyssey
Insights | 26. 02. 10
Prolonged Febrile Seizures and Developmental Plateau in a 7-Month-Old Infant: Beyond Simple Febrile Convulsions
Rare disease series | 26. 02. 09
Progressive Neurodevelopmental Regression and Refractory Epilepsy in a 36-Month-Old Female: A Clinical Correlation
Rare disease series | 26. 02. 09
Differential Diagnosis of Infantile Hypotonia: A Clinical Guide to Genetic Testing Integration
Genetic test | 26. 02. 06
