Giulia Parmeggiani

Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome

Francesca Gualandi, Fátima Záraket, Michele Malagù et al. · Cardiology · 2017 · 22 citations

Expanding the clinical spectrum of recessive truncating mutations of <i>KLHL7</i> to a Bohring-Opitz-like phenotype

Ange‐Line Bruel, Stefania Bigoni, Joanna Kennedy et al. · Journal of Medical Genetics · 2017 · 18 citations · Full text

A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature

Giulia Parmeggiani, Barbara Buldrini, Sergio Fini et al. · Molecular Syndromology · 2018 · 10 citations · Full text