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Browsing by Author "Sulem, Gerald"

Browsing by Author "Sulem, Gerald"

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  • Jensson, Brynjar Örn; Hansdottir, Sif; Arnadottir, Gudny; Sulem, Gerald; Kristjansson, Ragnar; Oddsson, Asmundur; Benonisdottir, Stefania; Jónsson, Hákon; Helgason, Agnar; Sæmundsdóttir, Jóna; Magnússon, Ólafur T.; Másson, Gísli; Thorisson, Gudmundur; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Sigurðsson, Ásgeir; Jonsdottir, Ingileif; Pétursdóttir, Vigdís; Kristinsson, Jón R.; Gudbjartsson, Daniel; Thorsteinsdottir, Unnur; Arngrimsson, Reynir; Sulem, Patrick; Guðmundsson, Gunnar; Stefansson, Kari (Springer Nature, 2017-11-14)
    Background: Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance. Case ...
  • Arnadottir, Gudny; Norðdahl, Guðmundur L.; Gudmundsdottir, Steinunn; Ágústsdóttir, Arna B.; Sigurðsson, Snævar; Jensson, Brynjar Örn; Bjarnadóttir, Kristbjörg; Theodórs, Fannar; Benonisdottir, Stefania; Ívarsdóttir, Erna V.; Oddsson, Asmundur; Kristjánsson, Ragnar P.; Sulem, Gerald; Alexandersson, Kristján F.; Júlíusdóttir, Þórhildur; Guðmundsson, Kjartan R.; Sæmundsdóttir, Jóna; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Sigurðsson, Ásgeir; Manzanillo, Paolo; Guðjónsson, Sigurjón Axel; Thorisson, Gudmundur A.; Magnússon, Ólafur Þ.; Másson, Gísli; Örvar, Kjartan B.; Holm, Hilma; Björnsson, Sigurður; Arngrimsson, Reynir; Gudbjartsson, Daniel; Thorsteinsdottir, Unnur; Jonsdottir, Ingileif; Haraldsson, Ásgeir; Sulem, Patrick; Stefansson, Kari (Springer Science and Business Media LLC, 2018-10-25)
    Mutations in genes encoding subunits of the phagocyte NADPH oxidase complex are recognized to cause chronic granulomatous disease (CGD), a severe primary immunodeficiency. Here we describe how deficiency of CYBC1, a previously uncharacterized protein ...
  • Benonisdottir, Stefania; Kristjansson, Ragnar P; Oddsson, Asmundur; Steinthorsdottir, Valgerdur; Mikaelsdottir, Evgenia; Kehr, Birte; Jensson, Brynjar O; Arnadottir, Gudny A; Sulem, Gerald; Sveinbjornsson, Gardar; Kristmundsdóttir, Snædís; Ívarsdóttir, Erna V.; Tragante, Vinicius; Gunnarsson, Bjarni; Runolfsdottir, Hrafnhildur Linnet; Arthur, Joseph G; Deaton, Aimee M; Eyjolfsson, Gudmundur I; Davidsson, Olafur B; Asselbergs, Folkert W; Hreidarsson, Astradur B; Rafnar, Thorunn; Thorleifsson, Gudmar; Edvardsson, Vidar; Sigurdsson, Gunnar; Helgadottir, Anna; Halldórsson, Bjarni; Masson, Gisli; Holm, Hilma; Önundarson, Páll Torfi; Indridason, Olafur S; Benediktsson, Rafn; Palsson, Runolfur; Gudbjartsson, Daniel F; Olafsson, Isleifur; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari (Oxford University Press (OUP), 2018-11-24)
    Urine dipstick tests are widely used in routine medical care to diagnose kidney and urinary tract and metabolic diseases. Several environmental factors are known to affect the test results, whereas the effects of genetic diversity are largely unknown. ...