Associated Papers
Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity.
Coste T et al.
Prenatal Diagnosis, 2025
39763161 (PubMed )
Supplement: supplement_1.docx
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.5
Computational analysis of the functional and structural impact of the most deleterious missense mutations in the human Protein C.
Farajzadeh-Dehkordi M et al.
Plos One, 2023
In silico report on five high-risk protein C pathogenic variants: G403R, P405S, S421N, C238S, and I243T.
Hristov D et al.
Mutation Research, 0
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