Area of research
Clinical Biochemistry · Genetics
Research interest
Research interests include Medicine, Thoracic aortic aneurysm, Gain of function, Cardiology, Internal medicine, and Dextromethorphan.
Barriers and facilitators to designing, maintaining, and utilizing rare disease patient registries: a scoping review protocol
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry
Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections