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

Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.

对来自奥克尼和设得兰群岛创始人群的 4,198 名苏格兰参与者进行了可操作的基因变异分析,并实施了结果反馈机制

Kerr Shona M, Klaric Lucija, Muckian Marisa D, Johnston Kiera, Drake Camilla, Halachev Mihail, Cowan Emma, Snadden Lesley, Dean John, Zheng Sean L, Thami Prisca K, Ware James S, Tzoneva Gannie, Shuldiner Alan R, Miedzybrodzka Zosia, Wilson James F

Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.

在苏格兰的奥克尼群岛和设得兰群岛,两个创始变异体占致病性 BRCA 等位基因的 90% 以上

Kerr Shona M, Klaric Lucija, Muckian Marisa D, Cowan Emma, Snadden Lesley, Tzoneva Gannie, Shuldiner Alan R, Miedzybrodzka Zosia, Wilson James F

The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity

苏格兰西部携带 m.3243A>G 变异的线粒体个体队列:表型变异及疾病严重程度预测因子

Saunders, Charlie; Longman, Cheryl; Gorman, Grainne; James, Kelly; Oliwa, Agata; Petty, Richard; Snadden, Lesley; Farrugia, Maria Elena