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Fletta eftir höfundi "Lee, Amy L."

Fletta eftir höfundi "Lee, Amy L."

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    MAP1B mutations cause intellectual disability and extensive white matter deficit 
    Walters, G. Bragi; Gústafsson, Ómar; Sveinbjornsson, Gardar; Eiriksdottir, Valgerdur Kristin; Ágústsdóttir, Arna B.; Jónsdóttir, Guðrún A.; Steinberg, Stacy; Gunnarsson, Árni F.; Magnússon, Magnús I.; Unnsteinsdóttir, Unnur; Lee, Amy L.; Jónasdóttir, Aðalbjörg; Sigurðsson, Ásgeir; Jónasdóttir, Áslaug; Skúladóttir, Ástrós; Jonsson, Lina; Nawaz, Muhammad S.; sulem, patrick; Frigge, Mike; Ingason, Andrés; Love, Askell; Norðdahl, Guðmundur L.; Zervas, Mark; Gudbjartsson, Daniel; Ulfarsson, Magnus; Sæmundsen, Evald E.; Stefansson, Hreinn; Stefansson, Kari (Springer Science and Business Media LLC, 2018-08-27)
    Discovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Wholegenome sequencing of 31,463 Icelanders uncovers a frameshift variant ...
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    Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis 
    Óskarsson, Guðjón R.; Oddsson, Asmundur; Magnusson, Magnus Karl; Kristjansson, Ragnar; Halldorsson, Gisli; Ferkingstad, Egil; Zink, Florian; Helgadottir, Anna; Ívarsdóttir, Erna V.; Arnadottir, Gudny; Jensson, Brynjar Örn; Katrinardottir, Hildigunnur; Sveinbjornsson, Gardar; Kristinsdóttir, Anna Margrét; Lee, Amy L.; Sæmundsdóttir, Jóna; Stefánsdóttir, Lilja; Sigurðsson, Jón K.; Davíðsson, Ólafur B.; Benonisdottir, Stefania; Jónasdóttir, Áslaug; Jónasdóttir, Aðalbjörg; Jonsson, Stefan; Guðmundsson, Reynir L.; Asselbergs, Folkert W.; Tragante, Vinicius; Gunnarsson, Bjarni; Másson, Gísli; Thorleifsson, Gudmar; Rafnar, Thorunn; Holm, Hilma; Olafsson, Isleifur; Önundarson, Páll Torfi; Gudbjartsson, Daniel; Norðdahl, Guðmundur L.; Thorsteinsdottir, Unnur; sulem, patrick; Stefansson, Kari (Springer Science and Business Media LLC, 2020-04-23)
    Hemoglobin is the essential oxygen-carrying molecule in humans and is regulated by cellular iron and oxygen sensing mechanisms. To search for novel variants associated with hemoglobin concentration, we performed genome-wide association studies of ...
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    Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis 
    Oskarsson, Gudjon R.; Oddsson, Asmundur; Magnusson, Magnus K.; Kristjansson, Ragnar P.; Halldorsson, Gisli H.; Ferkingstad, Egil; Zink, Florian; Helgadottir, Anna; Ivarsdottir, Erna V.; Arnadottir, Gudny A.; Jensson, Brynjar O.; Katrinardottir, Hildigunnur; Sveinbjornsson, Gardar; Kristinsdottir, Anna M.; Lee, Amy L.; Saemundsdottir, Jona; Stefansdottir, Lilja; Sigurdsson, Jon K.; Davidsson, Olafur B.; Benonisdottir, Stefania; Jonasdottir, Aslaug; Jonasdottir, Adalbjorg; Jonsson, Stefan; Gudmundsson, Reynir L.; Asselbergs, Folkert W.; Tragante, Vinicius; Gunnarsson, Bjarni; Masson, Gisli; Thorleifsson, Gudmar; Rafnar, Thorunn; Holm, Hilma; Olafsson, Isleifur; Onundarson, Pall T.; Gudbjartsson, Daniel F.; Norddahl, Gudmundur L.; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari (2020-04-23)
    Hemoglobin is the essential oxygen-carrying molecule in humans and is regulated by cellular iron and oxygen sensing mechanisms. To search for novel variants associated with hemoglobin concentration, we performed genome-wide association studies of ...