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

Defining the recommended gray zone in O6-methylguanine-DNA methyltransferase promoter methylation pyrosequencing reporting: A robust, translatable method to implement new EANO guidelines.

定义 O6-甲基鸟嘌呤-DNA 甲基转移酶启动子甲基化焦磷酸测序报告中推荐的灰色区域:一种稳健、可转化的方法来实施新的 EANO 指南

Taylor Polly, Cruickshank Gabrielle, Wildman Jack, Doyle George, Whittaker Ed, Walker Sara, McKeeve Claire, Faulkner Claire, Yarram-Smith Laura, White Paul, Kurian Kathreena M

Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records

1996-2020年英国国民医疗服务体系(NHS)区域分子基因组学实验室的种系错配修复(MMR)基因分析:建立国家级患者级基因组学实验室记录资源

Loong, Lucy; Huntley, Catherine; McRonald, Fiona; Santaniello, Francesco; Pethick, Joanna; Torr, Bethany; Allen, Sophie; Tulloch, Oliver; Goel, Shilpi; Shand, Brian; Rahman, Tameera; Luchtenborg, Margreet; Garrett, Alice; Barber, Richard; Bedenham, Tina; Bourn, David; Bradshaw, Kirsty; Brooks, Claire; Bruty, Jonathan; Burghel, George J; Butler, Samantha; Buxton, Chris; Callaway, Alison; Callaway, Jonathan; Drummond, James; Durkie, Miranda; Field, Joanne; Jenkins, Lucy; McVeigh, Terri P; Mountford, Roger; Nyanhete, Rodney; Petrides, Evgenia; Robinson, Rachel; Scott, Tracy; Stinton, Victoria; Tellez, James; Wallace, Andrew J; Yarram-Smith, Laura; Sahan, Kate; Hallowell, Nina; Eccles, Diana M; Pharoah, Paul; Tischkowitz, Marc; Antoniou, Antonis C; Evans, D Gareth; Lalloo, Fiona; Norbury, Gail; Morris, Eva; Burn, John; Hardy, Steven; Turnbull, Clare

Clinical and genetic analysis of patients with cystinuria in the United Kingdom

英国胱氨酸尿症患者的临床和基因分析

Rhodes, Hannah L; Yarram-Smith, Laura; Rice, Sarah J; Tabaksert, Ayla; Edwards, Noel; Hartley, Alice; Woodward, Mark N; Smithson, Sarah L; Tomson, Charles; Welsh, Gavin I; Williams, Margaret; Thwaites, David T; Sayer, John A; Coward, Richard J M