Asbjørg Stray-Pedersen
Norwegian National Newborn Screening, Oslo University Hospital
72 papers found
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Loss of B Cells in Patients with Heterozygous Mutations in IKAROS
Download from europepmc.orgNorsk laboratoriekodeverk – hvor ble det av visjonene?
Download from doi.orgSyndromic X-linked intellectual disability segregating with a missense variant in RLIM
Download from www.nature.comEarly-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
Download from ashpublications.orgIdentification of copy number variants from exome sequence data
Download from link.springer.comA Dominant STIM1 Mutation Causes Stormorken Syndrome
Upload'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
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