Congenital adrenal hyperplasia: new mutations and their effects on the enzymatic a...
Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil
Role of sodium channel Nav1.7I228M variant in the physiopathology of chemotherapy-...
Understanding the role of IMPA1 mutation in hippocampal neurons derived from patie...
What is the role of IMPA1 enzyme in Familial Intellectual Disability?
Identification of novel genes and functional studies in nonsyndromic deafness