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

Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis

利用双基因组测序筛查儿童线粒体疾病:一项回顾性分析

Wu, Teng-Hui; Peng, Jing; Yang, Li; Chen, Yan-Hui; Lu, Xiu-Lan; Huang, Jiao-Tian; You, Jie-Yu; Ou-Yang, Wen-Xian; Sun, Yue-Yu; Xue, Yi-Nan; Mao, Xiao; Yan, Hui-Ming; Ren, Rong-Na; Xie, Jing; Chen, Zhi-Heng; Zhang, Victor-Wei; Lyu, Gui-Zhen; He, Fang

Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient.

扩大 ZTTK 综合征的突变谱:一名中国患者出现新生变异,伴有全面发育迟缓和营养不良

Tang Shuo, You Jieyu, Liu Li, Ouyang Hongjuan, Jiang Na, Duan Jiaqi, Li Canlin, Luo Yanhong, Zhang Wenting, Zhan Meizheng, Liu Chenxi, Lyu Gui-Zhen, Zhang Victor Wei, Zhao Hongmei