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Endocrine|August 31, 2023
Genetic aspects underlying the normocalcemic and hypercalcemic phenotypes of primary hyperparathyroidismArianna Viviani, Luciano Colangelo, Bianca Maria Ciminelli, et al.Molecular Genetics and Metabolism|June 14, 2018
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stabilityGiovanna Menduti, Elisa Biamino, Roberta Vittorini, et al.European Journal of Human Genetics : EJHG|October 28, 2005
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populationsFiorenza Pompei, Bianca Maria Ciminelli, Cristina Bombieri, et al.European Journal of Human Genetics : EJHG|November 13, 2004
A large-scale study of the random variability of a coding sequence: a study on the CFTR geneGuido Modiano, Cristina Bombieri, Bianca Maria Ciminelli, et al.Pageof 2