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Editorial : sORF encoded peptides in health and disease
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Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.46-47 -
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Multiomics to investigate the mechanisms contributing to repression of PTPRC and SOCS2 in pediatric T-ALL : focus on miR-363-3p and promoter methylation
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- Journal Article
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Population genetics and signatures of selection in Early Neolithic European farmers
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- Journal Article
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Heritable connective tissue disorders in childhood : decreased health-related quality of life and mental health
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- Journal Article
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The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals
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- Journal Article
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Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort
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- Journal Article
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Hearing loss in stickler syndrome : an update
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- Journal Article
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Trans-driven variation in expression is common among detoxification genes in the extreme generalist herbivore Tetranychus urticae
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Molecular therapies and vaccines face the challenges of emerging infectious diseases