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

CPMOAD: comprehensive preeclampsia multi-omics analysis database

CPMOAD:综合性先兆子痫多组学分析数据库

Fang, Yang; Fan, Mengzhe; Li, Hao; Xu, Hongen; Du, Hongmei; Guo, Yaqing; Gao, Jinshuang; Yuan, Erfeng; Song, Liying; Wang, Yu; Shi, Qianqian; Yu, HaiYang; Yuan, Enwu; Zhao, Xin; Zhang, Linlin

Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.

对 100 名未经筛选的患者进行生殖系筛查,并对其 BRCA1 和 BRCA2 变异进行表征和功能分析

Shi Qianqian, Gao Jinshuang, Yu Haiyang, Niu Yaodong, Yuan Erfeng, Guo Yaqing, Song Liying, Fang Yang, Wang Yu, Yuan Enwu, Zhang Yanwu, Zhao Xin, Zhang Linlin

Allelic phenotype prediction of phenylketonuria based on the machine learning method

基于机器学习方法的苯丙酮尿症等位基因表型预测

Fang, Yang; Gao, Jinshuang; Guo, Yaqing; Li, Xiaole; Yuan, Enwu; Yuan, Erfeng; Song, Liying; Shi, Qianqian; Yu, Haiyang; Zhao, Dehua; Zhang, Linlin

Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication

评估扩展无创产前检测在染色体非整倍体和微缺失/微重复检测中的临床应用价值

Tian, Weifang; Yuan, Yangyang; Yuan, Erfeng; Zhang, Linlin; Liu, Ling; Li, Ying; Guo, Jing; Cui, Xueyin; Li, Pengyun; Cui, Shihong

Identification of phenylketonuria patient genotypes using single-gene full-length sequencing

利用单基因全长测序鉴定苯丙酮尿症患者的基因型

Gao, Jinshuang; Li, Xiaole; Guo, Yaqing; Yu, Haiyang; Song, Liying; Fang, Yang; Yuan, Erfeng; Shi, Qianqian; Zhao, Dehua; Yuan, Enwu; Zhang, Linlin

Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy

通过全外显子组测序在43名癫痫患者中鉴定出致病变异

Zhang, Linlin; Gao, Jinshuang; Liu, Hailiang; Tian, Yuan; Zhang, Xiaoli; Lei, Wei; Li, Ying; Guo, Yaqing; Yu, Haiyang; Yuan, Erfeng; Liang, Lisi; Cui, Shihong; Zhang, Xiaoan