Concepedia
Author
Gianpietro Giorgi
Also Known As
6
Publications
470
Citations
4
H-Index
0
Concepts
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All Concepts
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
Saskia F. Heeringa, Gil Chernin, Moumita Chaki, +52
Journal of Clinical Investigation
2011
394
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations
Alberto Casarin, Gianpietro Giorgi, Vanessa Pertegato, +14
Orphanet Journal of Rare Diseases
2012
32
Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants
Valeria Morbidoni, Elisa Baschiera, Monica Forzan, +9
Cancers
2021
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay
Gianpietro Giorgi, Alberto Casarin, Eva Trevisson, +6
Clinical Chemistry and Laboratory Medicine (CCLM)
2015
12
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