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

Evaluation and management of DMD gene copy number variations detected by prenatal SNP-array testing

评估和管理通过产前SNP芯片检测发现的DMD基因拷贝数变异

Hu, Jiancheng; Pang, Jialun; Hu, Rong; Zhou, Lin; Yu, Wenxian; Xi, Hui; Luo, Yingchun; Yang, Shuting; Tang, Wanglan; Hu, Ai; Chen, Jing; Peng, Ying

Trade-off strategies between drought resistance and growth rate of dominant tree species in karst forests within heterogeneous habitats

喀斯特森林异质生境中优势树种的抗旱性和生长速率之间的权衡策略

Wang, Jing; Wang, Bin; Wang, Denghui; Dong, Yanping; Li, Jianxing; Lu, Fang; Tao, Wanglan; Guo, Yili; Xiang, Wusheng; Wen, Meilan; Li, Xiankun

Whole exome sequencing in fetal cardiac rhabdomyoma detected by ultrasonography: an analysis of 12 cases

超声检查发现胎儿心脏横纹肌瘤的全外显子组测序:12例病例分析

Liu, Jing; He, Jun; Tang, Wanglan; Chen, Jing; Luo, Yingchun; Li, Haoxian; Li, Zhuo; Wu, Lingqian

Ultrasound and genetic findings in a case series of fetuses presenting vertebral defects.

一系列胎儿椎体缺陷病例的超声和基因检测结果

Xie Wanqin, Zhou Lin, Hu Ai, Chen Jing, Pang Jialun, Xi Hui, Luo Yingchun, Hu Jiancheng, Yang Shuting, Gao Xiaoyang, Kuang Hanzhe, Tang Wanglan, Liu Rui, Wang Silong, Peng Ying

A novel frameshift deletion variant of ARSL associated with X-linked recessive chondrodysplasia punctata 1: a case report and literature review of prenatal, confirmed cases

一种与X连锁隐性点状软骨发育不良1型相关的ARSL基因移码缺失变异:病例报告及产前确诊病例的文献综述

Zhou, Lin; Peng, Ying; Chen, Jing; Xi, Hui; Wang, Si; Kang, Gehua; Tang, Wanglan; Xie, Wanqin

Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report

中国一个反复流产家族中发现两种新的TMEM67变异:病例报告

Pang, Jialun; Kong, Fanjuan; Tang, Wanglan; Xi, Hui; Ma, Na; Sheng, Xiaoqi; Peng, Ying; Liu, Zhiyu

Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases

病例报告:多种基因检测方法检测胎儿9号染色体三体嵌合体:两例报告

Ma, Na; Zhu, Zhenhua; Hu, Jiancheng; Pang, Jialun; Yang, Shuting; Liu, Jing; Chen, Jing; Tang, Wanglan; Kuang, Haiyan; Hu, Rong; Li, Zhuo; Wang, Hua; Peng, Ying; Xi, Hui

Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I

瓜氨酸血症 I 型患者 ASS1 中的两个新变异和一个次等位基因变异的功能鉴定

Jing Liu, Zhongjie Wang, Huiming Yan, Yanling Teng, Qingxin Shi, Jing Chen, Wanglan Tang, Wenxian Yu, Ying Peng, Hui Xi, Na Ma, Desheng Liang, Zhuo Li, Lingqian Wu

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting

产前骨骼纤毛病病例系列的临床特征和基因分析

Peng, Ying; Zhou, Lin; Chen, Jing; Huang, Xiaoliang; Pang, Jialun; Liu, Jing; Tang, Wanglan; Yang, Shuting; Liang, Changbiao; Xie, Wanqin

Cross-talk between the gut microbiota and monocyte-like macrophages mediates an inflammatory response to promote colitis-associated tumourigenesis

肠道微生物群与单核细胞样巨噬细胞之间的相互作用介导炎症反应,从而促进结肠炎相关的肿瘤发生

Yunben Yang #, Lili Li #, Chunjing Xu #, Yunke Wang, Zhen Wang, Mengyao Chen, Zhou Jiang, Jun Pan, Chenghui Yang, Xiaoqian Li, Kai Song, Junfeng Yan, Wanglan Xie, Xianguo Wu, Zhigang Chen, Ying Yuan, Shu Zheng, Jun Yan, Jian Huang, Fuming Qiu