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

Implementation of an ISO 15189 accredited next generation sequencing service for cell-free total nucleic acid (cfTNA) analysis to facilitate driver mutation reporting in blood: the experience of a clinical diagnostic laboratory

实施符合 ISO 15189 标准的下一代测序服务进行无细胞总核酸 (cfTNA) 分析,以促进血液中驱动基因突变的报告:一家临床诊断实验室的经验

Werner, Reiltin; Crosbie, Ruth; Dorney, Mairead; Connolly, Amy; Collins, Dearbhaile; Hand, Collette K; Burke, Louise

Low incidence of BRAF and NRAS mutations in a population with a high incidence of melanoma

在黑色素瘤高发人群中,BRAF 和 NRAS 突变发生率较低

Neville, Grace; Marzario, Barbara; Shilling, David; Hand, Collette K; Heffron, Cynthia

Chorea-Acanthocytosis and the Huntington Disease Allele in an Irish Family

爱尔兰一个家族中的舞蹈病-棘红细胞增多症和亨廷顿病等位基因

Murphy, Olwen C; O'Toole, Orna; Hand, Collette K; Ryan, Aisling M

Long-term multilineage engraftment of autologous genome-edited hematopoietic stem cells in nonhuman primates

非人类灵长类动物中自体基因组编辑造血干细胞的长期多谱系植入

Christopher W Peterson, Jianbin Wang, Krystin K Norman, Zachary K Norgaard, Olivier Humbert, Collette K Tse, Jenny J Yan, Richard G Trimble, David A Shivak, Edward J Rebar, Philip D Gregory, Michael C Holmes, Hans-Peter Kiem

Phenotypic Variation in a Caucasian Kindred with Chorea-Acanthocytosis

高加索人家族中舞蹈棘红细胞症的表型变异

Merwick, Áine; Mok, Tzehow; McNamara, Brian; Parfrey, Nollaig A; Moore, Helena; Sweeney, Brian J; Hand, Collette K; Ryan, Aisling M

A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q

18q染色体上发现了一个新的家族性肌萎缩侧索硬化症基因位点

Hand, Collette K; Khoris, Jawad; Salachas, François; Gros-Louis, François; Lopes, Ana Amélia Simões; Mayeux-Portas, Veronique; Brewer, Carl G; Brown, Robert H Jr; Meininger, Vincent; Camu, William; Rouleau, Guy A