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Seminars in Respiratory and Critical Care Medicine|April 1, 2015
Genotypes and phenotypes in cystic fibrosis and cystic fibrosis transmembrane regulator-related disordersCristina Bombieri, Manuela Seia, Carlo CastellaniActa Paediatrica (Oslo, Norway : 1992)|June 28, 2006
Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newbornsRita Padoan, Carlo Corbetta, Alessandra Bassotti, et al.European Journal of Pediatrics|May 17, 2002
Negative sweat test in hypertrypsinaemic infants with cystic fibrosis carrying rare CFTR mutationsRita Padoan, Alessandra Bassotti, Manuela Seia, et al.Dermatology Online Journal|September 29, 2018
Ehlers-Danlos syndrome caused by the c.934C>T, p. Arg312Cys mutation in COL1A1 gene: an Italian family without cardiovascular eventsFrancesca Cortini, Barbara Marinelli, Manuela Seia, et al.Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|June 2, 2009
CFTR mutation in an Arab patient: clinical and functional features of 875+1G-->A/875+1G-->A genotypeElide Spinelli, Manuela Seia, Paola Melotti, et al.Dermatology Online Journal|January 26, 2019
RETRACTED: Ehlers-Danlos syndrome caused by the c.934C>T, p. Arg312Cys mutation in COL1A1 gene: an Italian family without cardiovascular eventsFrancesca Cortini, Barbara Marinelli, Manuela Seia, et al.Hemoglobin|January 10, 2018
Hb Mozhaisk [β92(F8)His→Arg; HBB: c.278A>G] as a De Novo Mutation in a Child of Mixed Ethnic OriginsElena Benzoni, Valentina Giannone, Laura Michetti, et al.Plos One|April 5, 2013
Gene mutation in microRNA target sites of CFTR gene: a novel pathogenetic mechanism in cystic fibrosis?Felice Amato, Manuela Seia, Sonia Giordano, et al.Journal of Medical Cases|August 26, 2021
Unexpected Genotype in a Non-Transfusion Dependent Thalassemia FamilyCristina Curcio, Valentina Giannone, Elena Benzoni, et al.Journal of Assisted Reproduction and Genetics|March 2, 2011
Use of parthenogenetic activation of human oocytes as an experimental model for evaluation of polar body based PGD assay performanceAlessio Paffoni, Valentina Paracchini, Stefania Ferrari, et al.Pageof 5