Latest Physician Education Resources
A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy.
A Specialized Niche in the Pancreatic Microenvironment Promotes Endocrine Differentiation
Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B
Genetic spectrum of retinal dystrophies in Tunisia
Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids
A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopietic dysfunction