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

Acquired cross-linker resistance associated with a novel spliced BRCA2 protein variant for molecular phenotyping of BRCA2 disruption.

获得性交联剂抗性与一种新型剪接 BRCA2 蛋白变体相关,用于 BRCA2 破坏的分子表型分析

Meyer Stefan, Stevens Adam, Paredes Roberto, Schneider Marion, Walker Michael J, Williamson Andrew J K, Gonzalez-Sanchez Maria-Belen, Smetsers Stephanie, Dalal Vineet, Teng Hsiang Ying, White Daniel J, Taylor Sam, Muter Joanne, Pierce Andrew, de Leonibus Chiara, Rockx Davy A P, Rooimans Martin A, Spooncer Elaine, Stauffer Stacey, Biswas Kajal, Godthelp Barbara, Dorsman Josephine, Clayton Peter E, Sharan Shyam K, Whetton Anthony D

Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1

华沙断裂综合征是一种与 XPD 解旋酶家族成员 DDX11/ChlR1 基因突变相关的黏连蛋白病。

van der Lelij, Petra; Chrzanowska, Krystyna H; Godthelp, Barbara C; Rooimans, Martin A; Oostra, Anneke B; Stumm, Markus; Zdzienicka, Małgorzata Z; Joenje, Hans; de Winter, Johan P