Identification of new genetic modifiers of the phenotype associated with SHOX hapl...
Investigation of duplications and deletions of exons of the TP53 gene in Li-Fraume...
Deletions screening of VHL, SDHB, SDHC and SDHD genes using MLPA technique in pati...
Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil
Williams-Beuren syndrome: a clinical study of 55 Brazilian patients and the diagno...
Detection of CYP21A2 large gene rearrangements through the Multiplex Ligation-Depe...