FUNCTIONAL STUDY OF THE EHMT2 GENE (CANDIDATE FOR A NOVEL KLEEFSTRA-LIKE SYNDROME)
Genetic and pathophysiological mechanisms in mendelian neurodevelopmental disorder...
Functional analysis of variants of uncertain significance in the breast cancer pre...
Identifying sickle cell anemia modifying genes by exome analysis
Screening of variants of unkown significance (VUS) in the RET proto-oncogene in pa...
Investigation of new hereditary forms of hearing loss and its pathophysiological m...
Cellular and molecular characterization of Xeroderma pigmentosum brazilian patients