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

Comparison of thyroid hormones reference intervals based on thyroid antibody levels: A multicenter study

基于甲状腺抗体水平的甲状腺激素参考区间比较:一项多中心研究

Beyter, Havva; Acar, Osman; Portakal, Oytun; Gülbahar, Özlem; Türkeş, Gülsüm F; Saral, Neslihan Yıldırım; Serdar, Muhittin Abdülkadir; Ozpinar, Aysel

Mid-Term Functional Recovery after Surgical Correction of ALCAPA: A 16-Year Single-Center Experience

ALCAPA手术矫正后的中期功能恢复:一项为期16年的单中心经验

Beyter, Mehmet B; Dogan, Eser; Tuncer, Osman N; Ergin, Firat; Kayan-Kasikci, Gulcin; Ulger, Zulal; Levent, Erturk; Atay, Yuksel

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

The correlation between CpG methylation and gene expression is driven by sequence variants

CpG 甲基化与基因表达之间的相关性由序列变异驱动

Olafur Andri Stefansson, Brynja Dogg Sigurpalsdottir, Solvi Rognvaldsson, Gisli Hreinn Halldorsson, Kristinn Juliusson, Gardar Sveinbjornsson, Bjarni Gunnarsson, Doruk Beyter, Hakon Jonsson, Sigurjon Axel Gudjonsson, Thorunn Asta Olafsdottir, Saedis Saevarsdottir, Magnus Karl Magnusson, Sigrun Helga

Variants at the Interleukin 1 Gene Locus and Pericarditis

白细胞介素 1 基因位点变异与心包炎

Thorolfsdottir, Rosa B; Jonsdottir, Andrea B; Sveinbjornsson, Gardar; Aegisdottir, Hildur M; Oddsson, Asmundur; Stefansson, Olafur A; Halldorsson, Gisli H; Saevarsdottir, Saedis; Thorleifsson, Gudmar; Stefansdottir, Lilja; Pedersen, Ole B; Sørensen, Erik; Ghouse, Jonas; Raja, Anna Axelsson; Zheng, Chaoqun; Silajdzija, Elvira; Rand, Søren Albertsen; Erikstrup, Christian; Ullum, Henrik; Mikkelsen, Christina; Banasik, Karina; Brunak, Søren; Ivarsdottir, Erna V; Sigurdsson, Asgeir; Beyter, Doruk; Sturluson, Arni; Einarsson, Hafsteinn; Tragante, Vinicius; Helgason, Hannes; Lund, Sigrun H; Halldorsson, Bjarni V; Sigurpalsdottir, Brynja D; Olafsson, Isleifur; Arnar, David O; Thorgeirsson, Gudmundur; Knowlton, Kirk U; Nadauld, Lincoln D; Gretarsdottir, Solveig; Helgadottir, Anna; Ostrowski, Sisse R; Gudbjartssson, Daniel F; Jonsdottir, Ingileif; Bundgaard, Henning; Holm, Hilma; Sulem, Patrick; Stefansson, Kari

A comparison of methods for detecting DNA methylation from long-read sequencing of human genomes

比较利用长读长测序技术检测人类基因组DNA甲基化的方法

Sigurpalsdottir, Brynja D; Stefansson, Olafur A; Holley, Guillaume; Beyter, Doruk; Zink, Florian; Hardarson, Marteinn Þ; Sverrisson, Sverrir Þ; Kristinsdottir, Nina; Magnusdottir, Droplaug N; Magnusson, Olafur Þ; Gudbjartsson, Daniel F; Halldorsson, Bjarni V; Stefansson, Kari

Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura

具有重大影响的罕见变异为有先兆和无先兆的偏头痛亚型的病理学提供了功能性见解

Gyda Bjornsdottir #, Mona A Chalmer #, Lilja Stefansdottir, Astros Th Skuladottir, Gudmundur Einarsson, Margret Andresdottir, Doruk Beyter, Egil Ferkingstad, Solveig Gretarsdottir, Bjarni V Halldorsson, Gisli H Halldorsson, Anna Helgadottir, Hannes Helgason, Grimur Hjorleifsson Eldjarn, Adalbjorg Jo

Sequence variants affecting the genome-wide rate of germline microsatellite mutations

影响全基因组种系微卫星突变率的序列变异

Kristmundsdottir, Snaedis; Jonsson, Hakon; Hardarson, Marteinn T; Palsson, Gunnar; Beyter, Doruk; Eggertsson, Hannes P; Gylfason, Arnaldur; Sveinbjornsson, Gardar; Holley, Guillaume; Stefansson, Olafur A; Halldorsson, Gisli H; Olafsson, Sigurgeir; Arnadottir, Gudny A; Olason, Pall I; Eiriksson, Ogmundur; Masson, Gisli; Thorsteinsdottir, Unnur; Rafnar, Thorunn; Sulem, Patrick; Helgason, Agnar; Gudbjartsson, Daniel F; Halldorsson, Bjarni V; Stefansson, Kari

Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

出版商更正:152万个体中纯合性缺失以及隐性致死的遗传原因

Oddsson, Asmundur; Sulem, Patrick; Sveinbjornsson, Gardar; Arnadottir, Gudny A; Steinthorsdottir, Valgerdur; Halldorsson, Gisli H; Atlason, Bjarni A; Oskarsson, Gudjon R; Helgason, Hannes; Nielsen, Henriette Svarre; Westergaard, David; Karjalainen, Juha M; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Jensson, Brynjar O; Tragante, Vinicius; Ferkingstad, Egil; Jonsson, Hakon; Gudjonsson, Sigurjon A; Beyter, Doruk; Moore, Kristjan H S; Thordardottir, Helga B; Kristmundsdottir, Snaedis; Stefansson, Olafur A; Rantapää-Dahlqvist, Solbritt; Sonderby, Ida Elken; Didriksen, Maria; Stridh, Pernilla; Haavik, Jan; Tryggvadottir, Laufey; Frei, Oleksandr; Walters, G Bragi; Kockum, Ingrid; Hjalgrim, Henrik; Olafsdottir, Thorunn A; Selbaek, Geir; Nyegaard, Mette; Erikstrup, Christian; Brodersen, Thorsten; Saevarsdottir, Saedis; Olsson, Tomas; Nielsen, Kaspar Rene; Haraldsson, Asgeir; Bruun, Mie Topholm; Hansen, Thomas Folkmann; Steingrimsdottir, Thora; Jacobsen, Rikke Louise; Lie, Rolv T; Djurovic, Srdjan; Alfredsson, Lars; Lopez de Lapuente Portilla, Aitzkoa; Brunak, Soren; Melsted, Pall; Halldorsson, Bjarni V; Saemundsdottir, Jona; Magnusson, Olafur Th; Padyukov, Leonid; Banasik, Karina; Rafnar, Thorunn; Askling, Johan; Klareskog, Lars; Pedersen, Ole Birger; Masson, Gisli; Havdahl, Alexandra; Nilsson, Bjorn; Andreassen, Ole A; Daly, Mark; Ostrowski, Sisse Rye; Jonsdottir, Ingileif; Stefansson, Hreinn; Holm, Hilma; Helgason, Agnar; Thorsteinsdottir, Unnur; Stefansson, Kari; Gudbjartsson, Daniel F

Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria

序列变异影响 GCSAML 剪接、肥大细胞特异性蛋白和荨麻疹风险

Ragnar P Kristjansson #, Gudjon R Oskarsson #, Astros Skuladottir, Asmundur Oddsson, Solvi Rognvaldsson, Gardar Sveinbjornsson, Sigrun H Lund, Brynjar O Jensson, Edda L Styrmisdottir, Gisli H Halldorsson, Egil Ferkingstad, Grimur Hjorleifsson Eldjarn, Doruk Beyter, Snædis Kristmundsdottir, Kristinn