Detection of pathogenic genetic variants in early-onset atrial fibrillation
1. Genetic testing in patients with early-onset atrial fibrillation, via major commercial arrhythmia and cardiomyopathy gene panels, were able to...
1. Genetic testing in patients with early-onset atrial fibrillation, via major commercial arrhythmia and cardiomyopathy gene panels, were able to...
1. 22q11.22 deletion alone was not associated with poor outcomes, but in combination with IKZF1 alteration predicted poor outcomes in...
1. Heterogeneity in histological profile linked to improved overall survival, chemotherapy response, and clinical course despite triple-negative receptor status in...
1. Mothers and fathers of children with major congenital abnormalities were found to experience an overall increased risk of mortality...
1. Evolocumab successfully reduced low density lipoprotein (LDL) cholesterol levels in pediatric patients with heterozygous familial hypercholesterolemia. 2. Non- high...
1. Use of patisiran, an RNA interference therapy, in patients with hereditary transthyretin (hATTR) cardiac amyloidosis was linked to reduced...
1. Haploinsufficiency of Sim1 or Mc4r in the hypothalamus result in an obesity phenotype in mice and humans. 2. In...
1. Proband exome sequencing revealed that approximately 10% of patients in this study cohort had a detectable genetic variant of...
1. In this randomized controlled trial, prophylactic lanadelumab reduced attack frequency and severity in patients with hereditary angioedema compared to...
1. Women with a BRCA1 mutation had lower anti-Müllerian hormone (AMH) levels than non-carriers. 2. There was no association between...
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