Results 331 to 340 of about 2,712,102 (401)

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan   +4 more
wiley   +1 more source

Novel Bioreactor Design for Non-invasive Longitudinal Monitoring of Tissue-Engineered Heart Valves in 7T MRI and Ultrasound. [PDF]

open access: yesAnn Biomed Eng
Mohapatra SR   +8 more
europepmc   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady   +10 more
wiley   +1 more source

Transcatheter Heart Valves: A Biomaterials Perspective

Advanced Healthcare Materials, 2021
Heart valve disease is prevalent throughout the world, and the number of heart valve replacements is expected to increase rapidly in the coming years.
H. Bui   +5 more
semanticscholar   +1 more source

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