Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease
2009 · The American Journal of Human Genetics · 568 citations
https://doi.org/10.1016/j.ajhg.2009.04.007
E
Ellen S. Regalado
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Ellen S. Regalado is an academic researcher from MACOM (United States). The author has contributed to research in topics: Connective tissue disorders research & Aortic Disease and Treatment Approaches & Aortic aneurysm repair treatments. The author has an h-index of 41, co-authored 80 publications.
ORCID: 0000-0002-5859-218XPapers by this author
worksMFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections
2014 · The American Journal of Human Genetics · 136 citations
https://doi.org/10.1016/j.ajhg.2014.10.018
Living with a child with MSUD: Psychosocial issues of Filipino parents with a child with maple syrup urine disease
2024 · Genetics in Medicine Open · 0 citations
https://doi.org/10.1016/j.gimo.2024.101847
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