Congenital adrenal hyperplasia: new mutations and their effects on the enzymatic a...
Functional analyses of novel nucleotides variations in the CYP21A2 gene identified...
FUNCTIONAL STUDY OF THE EHMT2 GENE (CANDIDATE FOR A NOVEL KLEEFSTRA-LIKE SYNDROME)
Analysis of alterations in the gene expression and in the enzymatic activity resul...
Integration of Experimental and in silico Methods in the Study of Antimicrobials M...
Detection of CYP21A2 large gene rearrangements through the Multiplex Ligation-Depe...