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Machine learning framework for breast cancer detection with feature selection with L2 ridge regularization: insights from multiple datasets

What can ATP content tell us about Barth syndrome muscle phenotypes?

The underdiagnosed kidney burden of Fabry disease in females

A novel SNP-based approach for non-invasive prenatal paternity testing using multiplex PCR targeted capture sequencing

PNPLA3 as a driver of steatotic liver disease: navigating from pathobiology to the clinics via epidemiology

The landscape of current and future therapeutic opportunities for Fabry disease

The polygenic risk score in the breast cancer treatment

Risk factors influencing chronic inflammation in neoplastic transition to prostate cancer

Fabry nephropathy: focus on podocyte damage and therapeutic target

In memory of Nathan A. Berger, MD

The diagnostic odyssey, clinical burden, and natural history of Barth syndrome: an analysis of patient registry data

Commentary on “transcription regulation by long non-coding RNAs: mechanisms and disease relevance”