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1Academic Journal
المؤلفون: Robert Lesurf, Jeroen Breckpot, Jade Bouwmeester, Nour Hanafi, Anjali Jain, Yijing Liang, Tanya Papaz, Jane Lougheed, Tapas Mondal, Mahmoud Alsalehi, Luis Altamirano-Diaz, Erwin Oechslin, Enrique Audain, Gregor Dombrowsky, Alex V. Postma, Odilia I. Woudstra, Berto J. Bouma, Marc-Phillip Hitz, Connie R. Bezzina, Gillian M. Blue, David S. Winlaw, Seema Mital
المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-24 (2024)
مصطلحات موضوعية: Congenital Heart Disease, Genomics, RNA splicing, Non-canonical, Machine Learning, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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2Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy
المؤلفون: David Chiasson, Jade Bouwmeester, Seema Mital, Caroline Kinnear, Lisa C.A. D'Alessandro, Roderick Yao, Sandar Min, Fred W. Keeley
المصدر: Circulation. Genomic and Precision Medicine
مصطلحات موضوعية: 0301 basic medicine, Male, Williams Syndrome, Williams-beuren syndrome, Pathology, medicine.medical_specialty, Catheters, hypertension, Adolescent, elastin, Kaplan-Meier Estimate, 030204 cardiovascular system & hematology, Cardiovascular System, Severity of Illness Index, arteries, 03 medical and health sciences, 0302 clinical medicine, muscle, smooth, Medicine, Humans, In patient, Vascular Diseases, Child, genes, Gene, biology, business.industry, Infant, aortic stenosis, General Medicine, Original Articles, Phenotype, Aortic Stenosis, Supravalvular, Pulmonary Valve Stenosis, 030104 developmental biology, Child, Preschool, biology.protein, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Female, Genetic diagnosis, business, Elastin