Index Catalog // Hyrax

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Filtrage par: Study Program Human Genetics and Genomics Study Program (HGSP)

1. Impact of Variants of Uncertain Significance on Mortality, Heart Failure, & Cardiac Arrest in Patients with Single Ventricle Disease

La description:: Background: Single ventricle disease (SVD) is a subtype of congenital heart disease that frequently requires early staged surgical intervention for survival. It is well known that syndromic causes of SVD are associated with worse outcomes. However, the...
date créée:: August 1-2, 2024

2. Investigating the Relationship Between Heart Rate, QT, and QTc in Alternating Hemiplegia of Childhood and Other ATP1A3-Associated Phenotypes

La description:: Background: Alternating hemiplegia of childhood (AHC) is a rare condition most frequently caused by mutations in ATP1A3, encoding for the alpha-3 subunit of Na+/K+-ATPase, and D801N is the most common variant. Individuals with ATP1A3-D801N have shorter...
date créée:: August 1-2, 2024