2025
Case report: Novel homozygous ACVRL1 missense variant in a family with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension: findings suggest a hypomorphic allele.
Frontiers in genetics
•Cancer Specialist (Oncologist), Hematologist (Blood Disease Specialist)
50 publications
2025
Frontiers in genetics
•2025
International forum of allergy & rhinology
•2025
Journal of thrombosis and haemostasis : JTH
•2024
Cleveland Clinic journal of medicine
•2024
The New England journal of medicine
•