Gianpietro Giorgi

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Saskia F. Heeringa, Gil Chernin, Moumita Chaki et al. · Journal of Clinical Investigation · 2011 · 394 citations · Full text

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations

Alberto Casarin, Gianpietro Giorgi, Vanessa Pertegato et al. · Orphanet Journal of Rare Diseases · 2012 · 32 citations · Full text

Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants

Valeria Morbidoni, Elisa Baschiera, Monica Forzan et al. · Cancers · 2021 · 32 citations · Full text

Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay

Gianpietro Giorgi, Alberto Casarin, Eva Trevisson et al. · Clinical Chemistry and Laboratory Medicine (CCLM) · 2015 · 12 citations · Full text