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

Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.

范可尼贫血核心复合体蛋白 FAAP100 缺乏会导致严重的范可尼贫血

Harrison Benjamin A, Mizrahi-Powell Emma, Pappas John, Thomas Kristen, Vasishta Subrahmanya, Hebbar Shripad, Shukla Anju, Nayak Shalini S, Truong Tina K, Woroch Amy, Kharbutli Yara, Gelb Bruce D, Mintz Cassie S, Evrony Gilad D, Smogorzewska Agata

Behavioral variant frontotemporal dementia with pathogenic variant in MAPT presenting as dementia with Lewy body disease

伴有MAPT致病变异的行为变异型额颞叶痴呆,表现为路易体痴呆

Xia, Tianxu; Li, Clara; Iverson, Ayuko; Spat-Lemus, Jessica; Woroch, Amy; Naasan, Georges