All Articles

Pregnancy outcomes and short-term follow-up of fetuses with recurrent microdeletion-microduplication syndromes featuring variable penetrance in prenatal diagnosis

A mini review of noncoding RNAs in the pathogenesis of polycystic kidney disease

The causal relationship between epigenetic aging and osteoporosis: a bi-directional Mendelian randomization study

Genomic insights into inherited bone marrow failure syndromes: a single-center clinical study

Review on gene and cell therapies in prostate cancer treatment: prospects and challenges

Investigating lysosomal dysfunction in Fabry disease using induced pluripotent stem cell-derived podocytes

Duchenne muscular dystrophy, one of the most complicated diseases for gene therapy

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