日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Missense variants in FRS3 affect body mass index in populations of diverse ancestries

FRS3基因的错义变异会影响不同种族人群的体重指数。

Jonsdottir, Andrea B; Sveinbjornsson, Gardar; Thorolfsdottir, Rosa B; Tamlander, Max; Tragante, Vinicius; Olafsdottir, Thorhildur; Rognvaldsson, Solvi; Sigurdsson, Asgeir; Eggertsson, Hannes P; Aegisdottir, Hildur M; Arnar, David O; Banasik, Karina; Beyter, Doruk; Bjarnason, Ragnar G; Bjornsdottir, Gyda; Brunak, Søren; Topholm Bruun, Mie; Dowsett, Joseph; Einarsson, Eythor; Einarsson, Gudmundur; Erikstrup, Christian; Fridriksdottir, Run; Ghouse, Jonas; Gretarsdottir, Solveig; Halldorsson, Gisli H; Hansen, Torben; Helgadottir, Anna; Holm, Peter C; Ivarsdottir, Erna V; Iversen, Kasper Karmark; Jensen, Bitten Aagaard; Jonsdottir, Ingileif; Knight, Stacey; Knowlton, Kirk U; Kristmundsdottir, Snaedis; Larusdottir, Adalheidur E; Magnusson, Olafur Th; Masson, Gisli; Melsted, Pall; Mikkelsen, Christina; Moore, Kristjan H S; Oddsson, Asmundur; Olason, Pall I; Palsson, Frosti; Pedersen, Ole Birger; Schwinn, Michael; Sigurdsson, Emil L; Skaftason, Aron; Stefansdottir, Lilja; Stefansson, Hreinn; Steingrimsdottir, Thora; Sturluson, Arni; Styrkarsdottir, Unnur; Sørensen, Erik; Teitsdottir, Unnur D; Thorgeirsson, Thorgeir E; Thorisson, Gudmundur A; Thorsteinsdottir, Unnur; Ulfarsson, Magnus O; Ullum, Henrik; Vikingsson, Arnor; Walters, G Bragi; Nadauld, Lincoln D; Bundgaard, Henning; Ostrowski, Sisse Rye; Helgason, Agnar; Halldorsson, Bjarni V; Norddahl, Gudmundur L; Ripatti, Samuli; Gudbjartsson, Daniel F; Thorleifsson, Gudmar; Steinthorsdottir, Valgerdur; Holm, Hilma; Sulem, Patrick; Stefansson, Kari

Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease

LAG3基因起始密码子变异与LAG-3表达降低和自身免疫性甲状腺疾病风险增加相关。

Saedis Saevarsdottir ,Kristbjörg Bjarnadottir ,Thorsteinn Markusson ,Jonas Berglund ,Thorunn A Olafsdottir ,Gisli H Halldorsson ,Gudrun Rutsdottir ,Kristbjorg Gunnarsdottir ,Asgeir Orn Arnthorsson ,Sigrun H Lund ,Lilja Stefansdottir ,Julius Gudmundsson ,Ari J Johannesson ,Arni Sturluson ,Asmundur Oddsson ,Bjarni Halldorsson ,Björn R Ludviksson ,Egil Ferkingstad ,Erna V Ivarsdottir ,Gardar Sveinbjornsson ,Gerdur Grondal ,Gisli Masson ,Grimur Hjorleifsson Eldjarn ,Gudmundur A Thorisson ,Katla Kristjansdottir ,Kirk U Knowlton ,Kristjan H S Moore ,Sigurjon A Gudjonsson ,Solvi Rognvaldsson ,Stacey Knight ,Lincoln D Nadauld ,Hilma Holm ,Olafur T Magnusson ,Patrick Sulem ,Daniel F Gudbjartsson ,Thorunn Rafnar ,Gudmar Thorleifsson ,Pall Melsted ,Gudmundur L Norddahl ,Ingileif Jonsdottir ,Kari Stefansson

Impact of COVID-19 on the incidence of CT-diagnosed appendicitis and its complications in the UK and Sweden

COVID-19 对英国和瑞典 CT 诊断阑尾炎及其并发症发生率的影响

Torkzad, Michael R; Thorisson, Arnar; Chabok, Abbas; Nikberg, Maziar; Andersson, Roland E; Labruto, Fausto

Changing Paradigms in the Management of Acute Uncomplicated Diverticulitis

急性单纯性憩室炎治疗模式的转变

Chabok, A; Thorisson, A; Nikberg, M; Schultz, J K; Sallinen, V

Diagnostic accuracy of acute diverticulitis with unenhanced low-dose CT

非增强低剂量CT对急性憩室炎的诊断准确性

Thorisson, A; Nikberg, M; Torkzad, M R; Laurell, H; Smedh, K; Chabok, A

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

UBA5基因复合杂合突变导致两姐妹患上早发性癫痫性脑病

Arnadottir, Gudny A; Jensson, Brynjar O; Marelsson, Sigurdur E; Sulem, Gerald; Oddsson, Asmundur; Kristjansson, Ragnar P; Benonisdottir, Stefania; Gudjonsson, Sigurjon A; Masson, Gisli; Thorisson, Gudmundur A; Saemundsdottir, Jona; Magnusson, Olafur Th; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Sigurdsson, Asgeir; Gudbjartsson, Daniel F; Thorsteinsdottir, Unnur; Arngrimsson, Reynir; Sulem, Patrick; Stefansson, Kari

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

冰岛一个家族中由COPA基因复发性错义突变引起的COPA综合征

Jensson, Brynjar O; Hansdottir, Sif; Arnadottir, Gudny A; Sulem, Gerald; Kristjansson, Ragnar P; Oddsson, Asmundur; Benonisdottir, Stefania; Jonsson, Hakon; Helgason, Agnar; Saemundsdottir, Jona; Magnusson, Olafur T; Masson, Gisli; Thorisson, Gudmundur A; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Sigurdsson, Asgeir; Jonsdottir, Ingileif; Petursdottir, Vigdis; Kristinsson, Jon R; Gudbjartsson, Daniel F; Thorsteinsdottir, Unnur; Arngrimsson, Reynir; Sulem, Patrick; Gudmundsson, Gunnar; Stefansson, Kari

Quantifying the use of bioresources for promoting their sharing in scientific research

量化生物资源的使用情况,以促进其在科学研究中的共享

Mabile, Laurence; Dalgleish, Raymond; Thorisson, Gudmundur A; Deschênes, Mylène; Hewitt, Robert; Carpenter, Jane; Bravo, Elena; Filocamo, Mirella; Gourraud, Pierre Antoine; Harris, Jennifer R; Hofman, Paul; Kauffmann, Francine; Muñoz-Fernàndez, Maria Angeles; Pasterk, Markus; Cambon-Thomsen, Anne

VarioML framework for comprehensive variation data representation and exchange

VarioML框架用于全面表示和交换变异数据

Byrne, Myles; Fokkema, Ivo Fac; Lancaster, Owen; Adamusiak, Tomasz; Ahonen-Bishopp, Anni; Atlan, David; Béroud, Christophe; Cornell, Michael; Dalgleish, Raymond; Devereau, Andrew; Patrinos, George P; Swertz, Morris A; Taschner, Peter Em; Thorisson, Gudmundur A; Vihinen, Mauno; Brookes, Anthony J; Muilu, Juha

Semantically enabling a genome-wide association study database

语义上启用全基因组关联研究数据库

Beck, Tim; Free, Robert C; Thorisson, Gudmundur A; Brookes, Anthony J