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

A Genetic Landscape of Euploid Miscarriages From Couples With Recurrent Pregnancy Loss Through Whole Exome Sequencing

通过全外显子组测序分析复发性流产夫妇的整倍体流产的遗传图谱

Kong, Fanjuan; Yin, Zhaochu; Zhou, Haiyan; Liu, Zhiyu; Xie, Wanqin

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

Identification of a Novel Splice-Site Variant in CACNA1F With Variable Phenotypic Expression in a Chinese Family

中国某家族中发现CACNA1F基因一个新的剪接位点变异,该变异具有不同的表型表达。

Li, Mojiang; Chen, Cheng; Li, Yingshu; Wen, Ting; Zhou, Haiyan; Xie, Wanqin

Compound Heterozygous Loss-of-Function Variants in CCM2L in a Fetus With Tetralogy of Fallot.

法洛四联症胎儿中 CCM2L 的复合杂合功能丧失变异

Ling Dandan, Xie Wanqin, Mao Xiao, Liu Zhiyu, Tang Yabing, Kong Fanjuan

Whole exome sequencing analysis of 167 men with primary infertility

对167名原发性不育男性进行全外显子组测序分析

Zhou, Haiyan; Yin, Zhaochu; Ni, Bin; Lin, Jiwu; Luo, Shuwei; Xie, Wanqin

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

Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report

BBS2基因新型复合杂合基因型的临床特征:病例报告

Li, Mojiang; Li, Yingshu; Wen, Ting; Zhou, Haiyan; Xie, Wanqin

Compound heterozygous B3GALNT2 mutations in a fetus with encephalocele: A case report

胎儿脑膨出伴复合杂合B3GALNT2突变:病例报告

Ling, Dandan; Xie, Wanqin; Mao, Xiao; Yang, Shengzhi; Pang, Haiyan; Yang, Ping; Shen, Ping; Tang, Yabing

HIF-1α promotes kidney organoid vascularization and applications in disease modeling

HIF-1α促进肾脏类器官血管化及其在疾病模型中的应用

Peng, Kexin; Xie, Wanqin; Wang, Tingting; Li, Yamei; de Dieu Habimana, Jean; Amissah, Obed Boadi; Huang, Jufang; Chen, Yong; Ni, Bin; Li, Zhiyuan

Case Report: Whole-exome sequencing identified two novel COMP variants causing pseudoachondroplasia.

病例报告:全外显子组测序发现了两种新的 COMP 变异体,可导致假性软骨发育不全。

Zhou Lin, Chen Jing, Liu Qian, Yang Shuting, Xie Wanqin, Peng Ying