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: Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature. 447 (7146):799-816 (2007)
: Chromatin architecture of the human genome: gene-rich domains are enriched in open chromatin fibers. Cell. 118 (5):555-66 (2004)
: Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet. 41 (4):241-8 (2004)
: Diet and the evolution of human amylase gene copy number variation. Nat Genet. 39 (10):1256-60 (2007)
: Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat Genet. 40 (1):90-5 (2008)
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