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Search Results for: Hereditary Genetics

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  • Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record
  • Genome-wide association study of bone mineral density in premenopausal European-American women and replication in African-American women
  • High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta
  • Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung´s disease in the Chinese population
  • Targeted genome-wide investigation identifies novel SNPs associated with diabetic nephropathy
  • Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development
  • IRF4 variants have age-specific effects on nevus count and predispose to melanoma
  • Polymorphisms in the selenoprotein S and 15-kDa selenoprotein genes are associated with altered susceptibility to colorectal cancer
  • Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls
  • A single nucleotide polymorphism within the acetyl-coenzyme A carboxylase beta gene is associated with proteinurea in patients with type 2 diabetes
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