Research Articles
The Genetic Detective Story: How a Hungarian Family's Skin Condition Was Misdiagnosed for Decades
Discover how genetic investigation revealed Acral Peeling Skin Syndrome in a Hungarian family previously diagnosed with Epidermolysis Bullosa Simplex.
Cracking the Genetic Code: A New Era for Diagnosing Vitamin B12 Defects
Discover how genomic analysis, functional and structural assessment are revolutionizing the diagnosis of cobalamin and related genetic defects.
Cellular Detectives: How Flow Cytometry Decodes the Body's Secret Messages
Explore how clinical flow cytometry, a hypothesis-driven discipline of modern cytomics, is revolutionizing disease diagnosis and treatment.