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BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding
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Phosphoproteome and gene expression profiling of ALK inhibition in neuroblastoma cell lines reveals conserved oncogenic pathways
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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective?
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Impact of the HIV-1 genetic background and HIV-1 population size on the evolution of raltegravir resistance
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Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion
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Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort
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Recurrently affected genes in juvenile myelomonocytic leukaemia
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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
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A questionnaire survey of radiological diagnosis and management of renal dysplasia in children
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Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer