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

Decreased ATM Function Causes Delayed DNA Repair and Apoptosis in Common Variable Immunodeficiency Disorders

ATM 功能下降导致常见变异型免疫缺陷病中的 DNA 修复延迟和细胞凋亡

Chantal E Hargreaves, Silvia Salatino, Sarah C Sasson, James E G Charlesworth, Elizabeth Bateman, Arzoo M Patel, Consuelo Anzilotti, John Broxholme, Julian C Knight, Smita Y Patel

Sequencing of human genomes with nanopore technology

利用纳米孔技术对人类基因组进行测序

Rory Bowden, Robert W Davies, Andreas Heger, Alistair T Pagnamenta, Mariateresa de Cesare, Laura E Oikkonen, Duncan Parkes, Colin Freeman, Fatima Dhalla, Smita Y Patel, Niko Popitsch, Camilla L C Ip, Hannah E Roberts, Silvia Salatino, Helen Lockstone, Gerton Lunter, Jenny C Taylor, David Buck, Micha

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

抗菌自噬受损与尼曼匹克病 C1 型中的肉芽肿性肠道炎症以及克罗恩病中的 XIAP 缺乏症与 NOD2 变异相关

Tobias Schwerd, Sumeet Pandey, Huei-Ting Yang, Katrin Bagola, Elisabeth Jameson, Jonathan Jung, Robin H Lachmann, Neil Shah, Smita Y Patel, Claire Booth, Heiko Runz, Gesche Düker, Ruth Bettels, Marianne Rohrbach, Subra Kugathasan, Helen Chapel, Satish Keshav, Abdul Elkadri, Nick Platt, Alexio M Muis

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders

应用全基因组和 RNA 测序研究常见变异性免疫缺陷病的基因组图谱

Pauline A van Schouwenburg, Emma E Davenport, Anne-Kathrin Kienzler, Ishita Marwah, Benjamin Wright, Mary Lucas, Tomas Malinauskas, Hilary C Martin; WGS500 Consortium; Helen E Lockstone, Jean-Baptiste Cazier, Helen M Chapel, Julian C Knight, Smita Y Patel