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Innovative use of forensic STRs for authentication of human cell lines stored over 34 years
Open Access Original Article 29 Jun 2025
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Comparative case series demonstrating disease modifying outcome with early ambroxol and enzyme replacement therapy in acute neuronopathic Gaucher disease
Open Access Review 23 Jun 2025
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Pregnancy outcomes and short-term follow-up of fetuses with recurrent microdeletion-microduplication syndromes featuring variable penetrance in prenatal diagnosis
Open Access Original Article 29 May 2025
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A mini review of noncoding RNAs in the pathogenesis of polycystic kidney disease
Open Access Review 28 May 2025
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The causal relationship between epigenetic aging and osteoporosis: a bi-directional Mendelian randomization study
Open Access Original Article 27 May 2025
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Genomic insights into inherited bone marrow failure syndromes: a single-center clinical study
Open Access Original Article 28 Apr 2025
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Review on gene and cell therapies in prostate cancer treatment: prospects and challenges
Open Access Review 20 Mar 2025
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Investigating lysosomal dysfunction in Fabry disease using induced pluripotent stem cell-derived podocytes
Open Access Original Article 25 Feb 2025
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Duchenne muscular dystrophy, one of the most complicated diseases for gene therapy
Open Access Review 25 Jan 2025
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Machine learning framework for breast cancer detection with feature selection with L2 ridge regularization: insights from multiple datasets
Open Access Original Article 21 Jan 2025
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What can ATP content tell us about Barth syndrome muscle phenotypes?
Open Access Review 14 Jan 2025
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The underdiagnosed kidney burden of Fabry disease in females
Open Access Original Article 23 Dec 2024
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A novel SNP-based approach for non-invasive prenatal paternity testing using multiplex PCR targeted capture sequencing
Open Access Original Article 20 Dec 2024
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PNPLA3 as a driver of steatotic liver disease: navigating from pathobiology to the clinics via epidemiology
Open Access Review 6 Dec 2024
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The landscape of current and future therapeutic opportunities for Fabry disease
Open Access Review 2 Dec 2024
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The polygenic risk score in the breast cancer treatment
Open Access Review 18 Nov 2024
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Risk factors influencing chronic inflammation in neoplastic transition to prostate cancer
Open Access Review 30 Oct 2024
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Fabry nephropathy: focus on podocyte damage and therapeutic target
Open Access Review 29 Sep 2024
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