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

CpG island methylator phenotype classification improves risk assessment in pediatric T-cell acute lymphoblastic leukemia

CpG岛甲基化表型分类可改善儿童T细胞急性淋巴细胞白血病的风险评估

Schäfer Hackenhaar, Fernanda; Refhagen, Nina; Hagleitner, Melanie; van Leeuwen, Frank; Marquart, Hanne Vibeke; Madsen, Hans Ole; Landfors, Mattias; Osterman, Pia; Schmiegelow, Kjeld; Flaegstad, Trond; Jónsson, Ólafur; Kanerva, Jukka; Abrahamsson, Jonas; Heyman, Mats; Norén Nyström, Ulrika; Hultdin, Magnus; Degerman, Sofie

Telomerase activity in T-cells as a functional test for pathogenicity assessment of novel genetic variants in telomere biology disorders.

细胞端粒酶活性作为评估端粒生物学疾病中新型遗传变异致病性的功能性检测

Carlund Olivia, Norberg Anna, Osterman Pia, Andersson Ida, Eriksson Alva, Degerman Sofie, Hultdin Magnus

A sensor complements the steric gate when DNA polymerase ϵ discriminates ribonucleotides

当DNA聚合酶ε区分核糖核苷酸时,传感器可以与空间位阻门互补。

Parkash, Vimal; Kulkarni, Yashraj; Bylund, Göran O; Osterman, Pia; Kamerlin, Shina Caroline Lynn; Johansson, Erik

DNA methylation variations and epigenetic aging in telomere biology disorders

DNA甲基化变异和端粒生物学疾病中的表观遗传衰老

Carlund, Olivia; Norberg, Anna; Osterman, Pia; Landfors, Mattias; Degerman, Sofie; Hultdin, Magnus

A geographically matched control population efficiently limits the number of candidate disease-causing variants in an unbiased whole-genome analysis

在无偏倚的全基因组分析中,地理位置匹配的对照人群能够有效限制候选致病变异的数量。

Rentoft, Matilda; Svensson, Daniel; Sjödin, Andreas; Olason, Pall I; Sjöström, Olle; Nylander, Carin; Osterman, Pia; Sjögren, Rickard; Netotea, Sergiu; Wibom, Carl; Cederquist, Kristina; Chabes, Andrei; Trygg, Johan; Melin, Beatrice S; Johansson, Erik

Blood cell telomere length is a dynamic feature

血细胞端粒长度是一个动态特征

Svenson, Ulrika; Nordfjäll, Katarina; Baird, Duncan; Roger, Laureline; Osterman, Pia; Hellenius, Mai-Lis; Roos, Göran