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

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

152 万个体的纯合性缺陷和隐性致死的遗传原因

Asmundur Oddsson #, Patrick Sulem #, Gardar Sveinbjornsson, Gudny A Arnadottir, Valgerdur Steinthorsdottir, Gisli H Halldorsson, Bjarni A Atlason, Gudjon R Oskarsson, Hannes Helgason, Henriette Svarre Nielsen, David Westergaard, Juha M Karjalainen, Hildigunnur Katrinardottir, Run Fridriksdottir, Bry

Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene

人群水平的纯合性缺陷揭示了 CPSF3 是一种智力障碍综合征基因

Gudny A Arnadottir, Asmundur Oddsson, Brynjar O Jensson, Svanborg Gisladottir, Mariella T Simon, Asgeir O Arnthorsson, Hildigunnur Katrinardottir, Run Fridriksdottir, Erna V Ivarsdottir, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Rebekah Barrick, Jona Saemundsdottir, Louise le Roux, Gudjon R Oskarss

Molecular benchmarks of a SARS-CoV-2 epidemic

SARS-CoV-2 流行病的分子基准

Hakon Jonsson, Olafur T Magnusson, Pall Melsted, Jonas Berglund, Arna B Agustsdottir, Berglind Eiríksdottir, Run Fridriksdottir, Elisabet Eir Garðarsdottir, Gudmundur Georgsson, Olafia S Gretarsdottir, Kjartan R Guðmundsson, Thora Rosa Gunnarsdottir, Hannes Eggertsson, Arnaldur Gylfason, Hilma Holm,

Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database

冰岛恶性高热症基因序列变异:人口数据库中的分类和可操作发现

Run Fridriksdottir #, Arnar J Jonsson #, Brynjar O Jensson, Kristinn O Sverrisson, Gudny A Arnadottir, Sigurbjorg J Skarphedinsdottir, Hildigunnur Katrinardottir, Steinunn Snaebjornsdottir, Hakon Jonsson, Ogmundur Eiriksson, Gudjon R Oskarsson, Asmundur Oddsson, Adalbjorg Jonasdottir, Aslaug Jonasdo