Investigation of new hereditary forms of hearing loss and its pathophysiological m...
Investigation of alphoid satellite DNA loss in centromeric regions in general popu...
Genetic bases of Syndromic Obesity and molecular mechanisms involved in its physio...
Screening of mutations related to hereditary anemias using NGS-Targeted sequencing...
Clinical impact of the use of genetic panels through next generation sequencing in...
Investigation of the molecular basis of familial non-medullary thyroid cancer.
Characterization of apparently balanced chromosomal rearrangements and of its asso...