Refreshing results…
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome
UploadScreening for Rare Coding Variants That Associate With the QTc Interval in Iceland
Download from doi.orgSequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria
Download from doi.orgSequence variants affecting the genome-wide rate of germline microsatellite mutations
Download from doi.orgGenetic architecture of band neutrophil fraction in Iceland
Download from doi.orgPopulation-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene
Download from doi.orgLarge-scale integration of the plasma proteome with genetics and disease
Download from www.nature.comUnexplained sudden death: next-generation sequencing to the rescue?
UploadDifferences between germline genomes of monozygotic twins
Download from www.nature.comPredicted loss and gain of function mutations in ACO1 are associated with erythropoiesis
Download from www.nature.comSequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density
Download from doi.orgA loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis
Download from www.nature.comGenome-wide association meta-analysis yields 20 loci associated with gallstone disease
Download from www.nature.comMultiple transmissions of de novo mutations in families
Download from www.nature.comA truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin
Download from www.nature.comA rare missense variant in NR1H4 associates with lower cholesterol levels
Download from doi.orgMissing publications? Search for publications with a matching author name.