Publications in collaboration with researchers from Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (4)

2026

  1. New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

    Journal of Internal Medicine, Vol. 299, Núm. 1, pp. 126-142

2023

  1. Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia

    Genes, Vol. 14, Núm. 1

2022

  1. Geographic distribution and phenotype of European people with cystic fibrosis carrying A1006E mutation

    Respiratory Medicine, Vol. 192

  2. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806