Genetic ablation of the steroid receptor coactivator-ubiquitin ligase, E6-AP, results in tissue-selective steroid hormone resistance and defects in reproduction.
Molecular and Cellular Biology.
Times cited: 61
Adult-onset combined methylmalonic aciduria and homocystinuria (cblC).
Times cited: 41
Clinicopathologic conference: Pulmonary hypertension in an 18-year-old girl with cholesteryl ester storage disease (CESD).
American Journal of Medical Genetics.
Times cited: 15