Associated Papers
The Role of Genetics in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension.
Hayvaci Canbeyli F et al.
Pediatric Cardiology, 2026
Variants of Uncertain Significance in Vascular Anomalies: The Role of Reclassification.
Blatt J et al.
Pediatric Blood & Cancer, 2025
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants
Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.
Mallet C et al.
Human Molecular Genetics, 2015
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