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

Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery

Genomics4RD:一个用于共享加拿大深度表型和多组学数据以促进国际罕见病基因发现的综合平台

Driver, Hannah G; Hartley, Taila; Price, E Magda; Turinsky, Andrei L; Buske, Orion J; Osmond, Matthew; Ramani, Arun K; Kirby, Emily; Kernohan, Kristin D; Couse, Madeline; Elrick, Hillary; Lu, Kevin; Mashouri, Pouria; Mohan, Aarthi; So, Delvin; Klamann, Conor; Le, Hannah G B H; Herscovich, Andrea; Marshall, Christian R; Statia, Andrew; Canada Consortium, Care Rare; Knoppers, Bartha M; Brudno, Michael; Boycott, Kym M

G970R-CFTR Mutation (c.2908G>C) Results Predominantly in a Splicing Defect

G970R-CFTR 突变 (c.2908G>C) 主要导致剪接缺陷

Fidler, Meredith C; Buckley, Alexandra; Sullivan, James C; Statia, Marvin; Boj, Sylvia F; Vries, Robert G J; Munck, Anne; Higgins, Mark; Moretto Zita, Matteo; Negulescu, Paul; van Goor, Fredrick; De Boeck, Kris

Protocol for Application, Standardization and Validation of the Forskolin-Induced Swelling Assay in Cystic Fibrosis Human Colon Organoids

囊性纤维化人类结肠类器官中福斯高林诱导肿胀试验的应用、标准化和验证方案

Annelotte M Vonk, Peter van Mourik, Anabela S Ramalho, Iris A L Silva, Marvin Statia, Evelien Kruisselbrink, Sylvia W F Suen, Johanna F Dekkers, Frank P Vleggaar, Roderick H J Houwen, Jasper Mullenders, Sylvia F Boj, Robert Vries, Margarida D Amaral, Kris de Boeck, Cornelis K van der Ent, Jeffrey M

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients

福斯克林诱导肠道类器官肿胀:一种评估囊性纤维化患者药物反应的体外检测方法

Boj, Sylvia F; Vonk, Annelotte M; Statia, Marvin; Su, Jinyi; Vries, Robert R G; Beekman, Jeffrey M; Clevers, Hans