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Fletta eftir höfundi "Gudjonsson, Sigurjon A."

Fletta eftir höfundi "Gudjonsson, Sigurjon A."

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    Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency 
    Runólfsdóttir, Hrafnhildur L.; Sayer, John A.; Indridason, Olafur S.; Eðvarðsson, Viðar Örn; Jensson, Brynjar O.; Arnadottir, Gudny A.; Gudjonsson, Sigurjon A.; Fridriksdottir, Run; Katrinardottir, Hildigunnur; Gudbjartsson, Daniel; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari; Pálsson, Runólfur (2021-03-11)
    Adenine phosphoribosyltransferase deficiency is a rare, autosomal recessive disorder of purine metabolism that causes nephrolithiasis and progressive chronic kidney disease. The small number of reported cases indicates an extremely low prevalence, ...
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    Large-scale plasma proteomics comparisons through genetics and disease associations 
    Eldjarn, Grimur Hjorleifsson; Ferkingstad, Egil; Lund, Sigrun H.; Helgason, Hannes; Magnusson, Olafur Th; Gunnarsdottir, Kristbjorg; Olafsdottir, Thorunn A.; Halldorsson, Bjarni V.; Olason, Pall I.; Zink, Florian; Gudjonsson, Sigurjon A.; Sveinbjornsson, Gardar; Magnusson, Magnus I.; Helgason, Agnar; Oddsson, Asmundur; Halldorsson, Gisli H.; Magnusson, Magnus K.; Sævarsdóttir, Sædís; Eiriksdottir, Thjodbjorg; Masson, Gisli; Stefansson, Hreinn; Jonsdottir, Ingileif; Holm, Hilma; Rafnar, Thorunn; Melsted, Pall; Saemundsdottir, Jona; Norddahl, Gudmundur L.; Thorleifsson, Gudmar; Ulfarsson, Magnus O.; Gudbjartsson, Daniel F.; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari (2023-10-04)
    High-throughput proteomics platforms measuring thousands of proteins in plasma combined with genomic and phenotypic information have the power to bridge the gap between the genome and diseases. Here we performed association studies of Olink Explore ...
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    Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures 
    Styrkarsdottir, Unnur; Thorleifsson, Gudmar; Gudjonsson, Sigurjon A.; Sigurdsson, Asgeir; Center, Jacqueline R.; Lee, Seung Hun; Nguyen, Tuan V.; Kwok, Timothy C.Y.; Lee, Jenny S.W.; Ho, Suzanne C.; Woo, Jean; Leung, Ping-C.; Kim, Beom-Jun; Rafnar, Thorunn; Kiemeney, Lambertus A.; Ingvarsson, Þorvaldur; Koh, Jung-Min; Tang, Nelson L.S.; Eisman, John A.; Christiansen, Claus; Sigurdsson, Gunnar; Thorsteinsdottir, Unnur; Stefansson, Kari (Springer Science and Business Media LLC, 2016-01-06)
    Bone mineral density (BMD) is a measure of osteoporosis and is useful in evaluating the risk of fracture. In a genome-wide association study of BMD among 20,100 Icelanders, with follow-up in 10,091 subjects of European and East-Asian descent, we found ...