Search filters

List of works by Luca Stefanucci

A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant

scientific article published on 19 January 2021

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

article

Non‐coding genetic variation in regulatory elements determines thrombosis and hemostasis phenotypes

scientific article published in 2022

Selection-free gene repair after adenoviral vector transduction of designer nucleases: rescue of dystrophin synthesis in DMD muscle cell populations.

scientific article published on 13 January 2016

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

Paulina is supported by:

About Paulina

Help