Asbjørg Stray-Pedersen
Norwegian National Newborn Screening, Oslo University Hospital
72 papers found
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Newborn Genetic Screening—Still a Role for Sanger Sequencing in the Era of NGS
Download from doi.orgPersonalised medicine for developmental disorders
Download from doi.orgGenetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders
UploadEn mann i 60-årene med kondritt og benmargssvikt
Download from doi.orgA Nationwide Study of GATA2 Deficiency in Norway—the Majority of Patients Have Undergone Allo-HSCT
UploadNext-generation sequencing of newborn screening genes: the accuracy of short-read mapping
Download from www.nature.comHuman NK cell deficiency as a result of biallelic mutations in MCM10
Download from doi.orgDisease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID
Download from doi.orgA novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
Download from rupress.orgInfliximab therapy for inflammatory colitis in an infant with NEMO deficiency
Download from link.springer.comMissing publications? Search for publications with a matching author name.