Area of research
Genetics · Pulmonary and Respiratory Medicine
Research interest
Research interests include Vascular Anomalies and Treatments, Tracheal and airway disorders, Pulmonary Hypertension Research and Treatments, and Sharing Economy and Platforms.
Rare disease gene association discovery in the 100,000 GenomesProject
Scientific Business Abstracts
Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia
European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT)
The Lung in Hereditary Hemorrhagic Telangiectasia
Hemorrhage-Adjusted Iron Requirements, Hematinics and Hepcidin Define Hereditary Hemorrhagic Telangiectasia as a Model of Hemorrhagic Iron Deficiency