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

A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect.

TECTA 中的一种新型剪接变体通过显性负效应与语前常染色体显性非综合征性听力损失相关

Yang Yan, Xiong YuanPing, Lai Hua, Feng Chuanxin, Chen ZhongFa, Huang YaJuan, Guo Zhen, Li XinYu, Luo Laipeng, Zhao Feng, Wu Ping, Luo Haiyan, Liu Yanqiu, Liu Yuhe, Zou Yongyi

Prenatal chromosomal microarray analysis in a large Chinese cohort of fetuses with congenital heart defects: a single center study

中国大型先天性心脏病胎儿队列的产前染色体微阵列分析:一项单中心研究

Lu, Qing; Luo, Laipeng; Zeng, Baitao; Luo, Haiyan; Wang, Xianjin; Qiu, Lijuan; Yang, Yan; Feng, Chuanxin; Zhou, Jihui; Hu, Yanling; Huang, Tingting; Ma, Pengpeng; Huang, Ting; Xie, Kang; Yuan, Huizhen; Huang, Shuhui; Yang, Bicheng; Zou, Yongyi; Liu, Yanqiu

Exploring the correlation between homocysteine, red blood cell folate and MTHFRC677T genotypes with female infertility

探讨同型半胱氨酸、红细胞叶酸和MTHFRC677T基因型与女性不孕症的相关性

You, Xueyun; Zhang, Zhaozhen; Xu, Yonghua; Yang, Bicheng; Huang, Shuhui; Zou, Yongyi; Zhao, Feng; Feng, Chuanxin; Lao, Haorui; Yuan, Huizhen; Liu, Yanqiu; Wu, Min

Identification of five novel SCN1A variants

鉴定出五种新的SCN1A变体

Zeng, Baitao; Zhang, Haoyi; Lu, Qing; Fu, Qingzi; Yan, Yang; Lu, Wan; Ma, Pengpeng; Feng, Chuanxin; Qin, Jiawei; Luo, Laipeng; Yang, Bicheng; Zou, Yongyi; Liu, Yanqiu

Identification of two novel and one rare mutation in DYRK1A and prenatal diagnoses in three Chinese families with intellectual Disability-7

在三个中国智力障碍-7 型家庭中,鉴定出 DYRK1A 基因中的两个新突变和一个罕见突变,并进行了产前诊断。

Huang, Cheng; Luo, Haiyan; Zeng, Baitao; Feng, Chuanxin; Chen, Jia; Yuan, Huizhen; Huang, Shuhui; Yang, Bicheng; Zou, Yongyi; Liu, Yanqiu

Progesterone activates GPR126 to promote breast cancer development via the Gi pathway

孕酮通过Gi通路激活GPR126促进乳腺癌发展

Wentao An, Hui Lin, Lijuan Ma, Chao Zhang, Yuan Zheng, Qiuxia Cheng, Chuanshun Ma, Xiang Wu, Zihao Zhang, Yani Zhong, Menghui Wang, Dongfang He, Zhao Yang, Lutao Du, Shiqing Feng, Chuanxin Wang, Fan Yang, Peng Xiao, Pengju Zhang, Xiao Yu, Jin-Peng Sun