Identification and validation of loss of function variants in clinical contexts

by Francesco Lescai, Elena Marasco, Chiara Bacchelli, Philip Stanier, Vilma Mantovani, Philip Beales
Published 2014-01-01

Maternal Supplementation With Krill Oil During Breastfeeding and Long-Chain Polyunsaturated Fatty Acids (LCPUFAs) Composition of Human Milk: A Feasibility Study

by Anna Giulia Cimatti, Anna Giulia Cimatti, Silvia Martini, Silvia Martini, Alessandra Munarini, Alessandra Munarini, Maximilano Zioutas, Francesca Vitali, Francesca Vitali, Arianna Aceti, Arianna Aceti, Vilma Mantovani, Vilma Mantovani, Giacomo Faldella, Giacomo Faldella, Luigi Corvaglia
Published 2018-12-01

Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing

by Giovanni Vitale, Martina Pirillo, Vilma Mantovani, Elena Marasco, Adelia Aquilano, Nesrine Gamal, Paola Francalanci, Fabio Conti, Pietro Andreone
Published 2016-09-01

Single step multiple genotyping by MALDI-TOF mass spectrometry, for evaluation of minor histocompatibility antigens in patients submitted to allogeneic stem cell transplantation fr...

by Federica Cattina, Simona Bernardi, Vilma Mantovani, Eleonora Toffoletti, Alessandra Santoro, Domenico Pastore, Bruno Martino, Giuseppe Console, Giovanni Martinelli, Michele Malagola
Published 2017-09-01

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Cha...

by Vilma Mantovani, Vilma Mantovani, Sofia Bin, Sofia Bin, Claudio Graziano, Irene Capelli, Raffaella Minardi, Raffaella Minardi, Valeria Aiello, Enrico Ambrosini, Carlotta Pia Cristalli, Carlotta Pia Cristalli, Alessandro Mattiaccio, Milena Pariali, Sara De Fanti, Flavio Faletra, Enrico Grosso, Rachele Cantone, Elena Mancini, Francesca Mencarelli, Andrea Pasini, Anita Wischmeijer, Nicola Sciascia, Marco Seri, Gaetano La Manna
Published 2020-05-01