Silvia Ferrari

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 4

Top Topics

Intellectual Disability

Recombinant Human

Top Venues

British journal of haematology

This page only lists publications with an associated author ORCID identifier.

Publications

Silvia Ferrari, Daniela Regazzo, Anna Cerbo, Irene Cortella, Antonella Bertomoro, Paolo Simioni
The compound pathogenic effects of a homozygous frameshift variant in the transmembrane region of GP9, causing Bernard-Soulier syndrome, with a missense variant in GP1BB. British journal of haematology 205 (2) (2024)
Silvia Ferrari, Daniela Regazzo, Anna Cerbo, Irene Cortella, Antonella Bertomoro, Paolo Simioni
The compound pathogenic effects of a homozygous frameshift variant in the transmembrane region of GP9, causing Bernard-Soulier syndrome, with a missense variant in GP1BB. British journal of haematology (2024)
Antonio Girolami, Silvia Ferrari, Bruno Girolami, Gianlodovico Molaro
The slow but progressive disappearance of the patients with the Pro343Ser (FX Friuli) mutation. British journal of haematology 191 (2) (2020)
Silvia Ferrari, Anna M Lombardi, Irene Cortella, Maria A Businaro, Antonella Bertomoro, Irene Di Pasquale, Fabrizio Fabris
New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia. British journal of haematology 184 (5) (2018)