Associated Papers
Assessment of a next generation sequencing gene panel strategy in 133 patients with negative thrombophilia screening.
Suchon P et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases.
Levy M et al.
Journal of Human Genetics, 2024
Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.
Marín Ò et al.
Scientific Reports, 2019
31267011 (PubMed )
Supplement: 41598_2019_45916_MOESM2_ESM.xlsx › Variants_used
The natural history of mild haemophilia: a 30-year single centre experience.
Tagliaferri A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations.
Riccardi F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010
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