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Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype.
2014-01-01 Costantini, S; Malerba, Giovanni; Contreas, G; Corradi, Massimiliano; Marin Vargas, Sergio Paul; Giorgetti, Alejandro; Maffeis, Claudio
Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload
2016-01-01 Badar, Sadaf; Busti, Fabiana; Ferrarini, Alberto; Xumerle, Luciano; Bozzini, Paolo; Capelli, Paola; POZZI MUCELLI, Roberto; Campostrini, Natascia; DE MATTEIS, Giovanna; Marin Vargas, Sergio Paul; Giorgetti, Alejandro; Delledonne, Massimo; Olivieri, Oliviero; Girelli, Domenico
Functional characterization of disease-associated genetic variants: insights from protein bioinformatics
2016-01-01 Marin Vargas, Sergio Paul
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype. | 1-gen-2014 | Costantini, S; Malerba, Giovanni; Contreas, G; Corradi, Massimiliano; Marin Vargas, Sergio Paul; Giorgetti, Alejandro; Maffeis, Claudio | |
| Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload | 1-gen-2016 | Badar, Sadaf; Busti, Fabiana; Ferrarini, Alberto; Xumerle, Luciano; Bozzini, Paolo; Capelli, Paola; POZZI MUCELLI, Roberto; Campostrini, Natascia; DE MATTEIS, Giovanna; Marin Vargas, Sergio Paul; Giorgetti, Alejandro; Delledonne, Massimo; Olivieri, Oliviero; Girelli, Domenico | |
| Functional characterization of disease-associated genetic variants: insights from protein bioinformatics | 1-gen-2016 | Marin Vargas, Sergio Paul |
Mostrati risultati da 1 a 3 di 3
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