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

Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome

端粒磨损和功能障碍:奈梅亨断裂综合征中早衰表型的潜在诱因

Raneem Habib, Ryong Kim, Heidemarie Neitzel, Ilja Demuth, Krystyna Chrzanowska, Eva Seemanova, Renaldo Faber, Martin Digweed, Reinhard Voss, Kathrin Jäger, Karl Sperling, Michael Walter1

Yeast XRS2 and human NBN gene: Experimental evidence for homology using codon optimized cDNA

酵母 XRS2 和人类 NBN 基因:使用密码子优化 cDNA 进行同源性的实验证据

Ilja Demuth, Simon K Krebs, Véronique Dutrannoy, Christian Linke, Sylvia Krobitsch, Raymonda Varon, Christine Lang, Andreas Raab, Karl Sperling, Martin Digweed

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

体细胞突变和进行性单体性改变人类 SAMD9 相关表型

Federica Buonocore, Peter Kühnen, Jenifer P Suntharalingham, Ignacio Del Valle, Martin Digweed, Harald Stachelscheid, Noushafarin Khajavi, Mohammed Didi, Angela F Brady, Oliver Blankenstein, Annie M Procter, Paul Dimitri, Jerry K H Wales, Paolo Ghirri, Dieter Knöbl, Brigitte Strahm, Miriam Erlacher,

Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application

奈梅亨断裂综合征中的定向可变剪接:有关其治疗应用的原理证明

Bastian Salewsky, Gabriele Hildebrand, Susanne Rothe, Ann Christin Parplys, Janina Radszewski, Moritz Kieslich, Petra Wessendorf, Harald Krenzlin, Kerstin Borgmann, André Nussenzweig, Karl Sperling, Martin Digweed

Endogenous hSNM1B/Apollo interacts with TRF2 and stimulates ATM in response to ionizing radiation

内源性 hSNM1B/Apollo 与 TRF2 相互作用并刺激 ATM 响应电离辐射

Ilja Demuth, Paul S Bradshaw, Anika Lindner, Marco Anders, Stefanie Heinrich, Julia Kallenbach, Karin Schmelz, Martin Digweed, M Stephen Meyn, Patrick Concannon