Probabilistic record linkage of de-identified research datasets with discrepancies using diagnosis codes.
Auditory brainstem response in infants and children with autism spectrum disorder: A meta-analysis of wave V.
The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated.
Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-ß-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease.
