Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists

by Silvia Kalantari, Brigida Brezzi, Valeria Bracciamà, Antonella Barreca, Paolo Nozza, Tiziana Vaisitti, Antonio Amoroso, Silvia Deaglio, Marco Manganaro, Francesco Porta, Marco Spada
Published 2022-02-01

New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome?

by Michele Pinon, Pier Luigi Calvo, Davide Tinti, Silvia Kalantari, Luca Fabris, Massimiliano Cadamuro, Alessandro Gambella, Renato Romagnoli, Laura Giugliano, Cristina Chiadò, Valeria Bracciamà, Silvia Deaglio, Licia Peruzzi, Roberta Cotti, Silvia Catalano
Published 2022-09-01

The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution

by Tiziana Vaisitti, Valeria Bracciamà, Angelo Corso Faini, Giulia Margherita Brach Del Prever, Martina Callegari, Silvia Kalantari, Fiorenza Mioli, Carmelo Maria Romeo, Maria Luca, Roberta Camilla, Francesca Mattozzi, Bruno Gianoglio, Licia Peruzzi, Antonio Amoroso, Silvia Deaglio
Published 2023-02-01

Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure

by Claudia Saglia, Valeria Bracciamà, Luca Trotta, Fiorenza Mioli, Angelo Corso Faini, Giulia Margherita Brach Del Prever, Silvia Kalantari, Maria Luca, Carmelo Maria Romeo, Caterina Scolari, Licia Peruzzi, Pier Luigi Calvo, Alessandro Mussa, Roberta Fenoglio, Dario Roccatello, Claudio Alberti, Diana Carli, Antonio Amoroso, Silvia Deaglio, Tiziana Vaisitti
Published 2023-11-01