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

Chromosomal Location and Identification of TBX20 as a New Gene Responsible for Familial Bicuspid Aortic Valve

TBX20基因的染色体定位及鉴定:该基因是导致家族性二叶式主动脉瓣畸形的新基因

Li, Yan-Jie; Zou, Su; Bian, Yi-Zhe; Liu, Xing-Yuan; Yang, Chen-Xi; Li, Li; Qiu, Xing-Biao; Xu, Ying-Jia; Yang, Yi-Qing; Huang, Ri-Tai

Identification and Functional Characterization of a Novel SOX4 Mutation Predisposing to Coffin-Siris Syndromic Congenital Heart Disease.

鉴定和功能表征一种易导致 Coffin-Siris 综合征先天性心脏病的新型 SOX4 突变

Yan Zi, Dong Bin-Bin, Li Yan-Jie, Yang Chen-Xi, Xu Ying-Jia, Huang Ri-Tai, Liu Xing-Yuan, Yang Yi-Qing

TBX1 loss-of-function mutation contributes to congenital conotruncal defects

TBX1功能缺失突变是先天性圆锥动脉干畸形的原因之一。

Zhang, Min; Li, Fu-Xing; Liu, Xing-Yuan; Hou, Jing-Yi; Ni, Shi-Hong; Wang, Juan; Zhao, Cui-Mei; Zhang, Wei; Kong, Ye; Huang, Ri-Tai; Xue, Song; Yang, Yi-Qing

TBX20 loss-of-function mutation responsible for familial tetralogy of Fallot or sporadic persistent truncus arteriosus

TBX20 功能缺失突变是导致家族性法洛四联症或散发性动脉干持续存在的病因。

Huang, Ri-Tai; Wang, Juan; Xue, Song; Qiu, Xing-Biao; Shi, Hong-Yu; Li, Ruo-Gu; Qu, Xin-Kai; Yang, Xiao-Xiao; Liu, Hua; Li, Ning; Li, Yan-Jie; Xu, Ying-Jia; Yang, Yi-Qing