Refreshing results…
MAP1B mutations cause intellectual disability and extensive white matter deficit
Download from www.nature.comCoding variants in RPL3L and MYZAP increase risk of atrial fibrillation
Download from www.nature.comA truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin
Download from www.nature.comCOPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA
Download from doi.orgCompound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
Download from doi.orgWhole genome characterization of sequence diversity of 15,220 Icelanders
Download from www.nature.comIdentification of sequence variants influencing immunoglobulin levels
Download from www.nature.comDiversity in non-repetitive human sequences not found in the reference genome
Download from www.nature.comSequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation
Download from www.nature.comA genome-wide association study yields five novel thyroid cancer risk loci
Download from www.nature.comEpigenetic and genetic components of height regulation
Download from www.nature.comHLA class II sequence variants influence tuberculosis risk in populations of European ancestry
Download from www.nature.comA protein truncating R179X variant in RNF186 confers protection against ulcerative colitis
Download from www.nature.comMissing publications? Search for publications with a matching author name.