Pubblicazioni

Alternating hemiplegia of childhood: Understanding the genotype–phenotype relationship of ATP1A3 variations

2020 - THE APPLICATION OF CLINICAL GENETICS
Capuano, A.; Garone, G.; Tiralongo, G.; Graziola, F.

A two gene-based risk score predicts alcoholic cirrhosis development in males with at-risk alcohol consumption

2019 - THE APPLICATION OF CLINICAL GENETICS
Mancina, Rosellina Margherita; Ferri, Flaminia; Farcomeni, Alessio; Molinaro, Antonio; Maffongelli, Angela; Mischitelli, Monica; Poli, Edoardo; Parlati, Lucia; Burza, Maria Antonella; De Santis, Adriano; Attilia, Fabio; Rotondo, Claudia; Rando, Maria Margherita; Attilia, Maria Luisa; Ceccanti, Mauro; Corradini, Stefano Ginanni

COL2A1 gene mutations: mechanisms of spondyloepiphyseal dysplasia congenita

2019 - THE APPLICATION OF CLINICAL GENETICS
Nenna, R.; Turchetti, A.; Mastrogiorgio, G.; Midulla, F.

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