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Neoplasia, Ageing, and Genetic Instability due to Defective Caretaker Genes
Published 2008-01-01Get full text
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Satellite Cells: Regenerative Mechanisms and Applicability in Muscular Dystrophy
Published 2015-01-01Get full text
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Impact of Population Stratification on Family-Based Association in an Admixed Population
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Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa
Published 2014-01-01Get full text
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High order expression dependencies finely resolve cryptic states and subtypes in single cell data
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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Replication-IDentifier links epigenetic and metabolic pathways to the replication stress response
Published 2025-02-01Get full text
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Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies
Published 2025-01-01Get 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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A Case of False Negative NIPT for Down Syndrome-Lessons Learned
Published 2014-01-01Get full text
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Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes
Published 2019-01-01Get full text
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An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants
Published 2025-02-01Get full text
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A collaborative network analysis for the interpretation of transcriptomics data in Huntington’s disease
Published 2025-01-01Get full text
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