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Search Results (33)

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Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics.Academic Article Why?
Human liver methionine cycle: MAT1A and GNMT gene resequencing, functional genomics, and hepatic genotype-phenotype correlation.Academic Article Why?
Proteasome beta subunit pharmacogenomics: gene resequencing and functional genomics.Academic Article Why?
Younger, ScottPerson Why?
Grundberg, ElinPerson Why?
Smail, CraigPerson Why?
Sampath, VenkateshPerson Why?
Serine hydroxymethyltransferase 1 and 2: gene sequence variation and functional genomic characterization.Academic Article Why?
Fridley, BrookePerson Why?
Identification of functional regulatory elements in the human genome using pooled CRISPR screens.Academic Article Why?
Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells.Academic Article Why?
Gaedigk, AndreaPerson Why?
Goggin, KathyPerson Why?
Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants.Academic Article Why?
Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients.Academic Article Why?
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