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Neoplasia, Ageing, and Genetic Instability due to Defective Caretaker Genes
Published 2008-01-01Get full text
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Replication-IDentifier links epigenetic and metabolic pathways to the replication stress response
Published 2025-02-01Get full text
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Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease
Published 2025-01-01Get full text
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Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient
Published 2012-01-01Get full text
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Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease
Published 2025-01-01Get full text
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MicroRNA-21 as a Regulator of Cancer Stem Cell Properties in Oral Cancer
Published 2025-01-01Get full text
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Editorial: Global advances in the diagnosis, management, and treatment of low back pain
Published 2025-02-01Get full text
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Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report
Published 2024-08-01Get full text
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BRCA2 Heterozygosity Delays Cytokinesis in Primary Human Fibroblasts
Published 2009-01-01Get full text
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A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant
Published 2024-08-01Get full text
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Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family
Published 2011-01-01Get full text
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Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression
Published 2025-01-01Get full text
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Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa
Published 2017-01-01Get full text
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