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CORC

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[THRA gene mutation in a child with congenital hypothyroidism]. 期刊论文
Zhonghua er ke za zhi = Chinese journal of pediatrics, 2019, 卷号: 57, 期号: 4
作者:  Wang Y;  Ma Y;  Long S S;  Lu T;  Zhou H
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05
Normative Data for Thyroid Stimulating Hormone for Screening of Congenital Hypothyroidism: Correspondence. 期刊论文
Indian journal of pediatrics, 2019, 卷号: 86, 页码: 312-312
作者:  Ma Zheng Feei
收藏  |  浏览/下载：20/0  |  提交时间：2019/11/19
Novel non-synonymous mutations of PAX8 in a cohort of Chinese with congenital hypothyroidism 期刊论文
CHINESE MEDICAL JOURNAL, 2019, 卷号: 132, 期号: 11
作者:  Qian, Fang;  Li, Gui-Yu;  Wu, Xiang-Jun;  Jia, Qin;  Lyu, Guan-Ting
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05
Identification of Two Missense Mutations in DUOX1 (p.R1307Q) and DUOXA1 (p.R56W) That Can Cause Congenital Hypothyroidism Through Impairing H2O2 Generation 期刊论文
2019, 卷号: 10, 页码: 526
作者:  Liu, Shiguo;  Han, Wenxiu;  Zang, Yucui;  Zang, Hongwei;  Wang, Fang
收藏  |  浏览/下载：9/0  |  提交时间：2020/01/03
An exonic splicing enhancer mutation in DUOX2 causes aberrant alternative splicing and severe congenital hypothyroidism in Bama pigs 期刊论文
Disease Models & Mechanisms, 2019, 卷号: 12, 期号: 1, 页码: 1-8
作者:  Cao CW(曹春伟);  Zhang Y(张颖);  Jia QT(贾启涛);  Wang X(王霄);  Zheng QT(郑千涛)
收藏  |  浏览/下载：11/0  |  提交时间：2020/11/17
Mutation Screening in 60 Chinese Patients with Congenital Hypothyroidism 会议论文
作者:  Luo, Feihong;  Zheng, Zhangqian;  Lu, Wei;  Wu, Jing
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/05
Mutation Screening in 60 Chinese Patients with Congenital Hypothyroidism 期刊论文
HORMONE RESEARCH IN PAEDIATRICS, 2018, 卷号: Vol.90, 页码: 598
作者:  Zheng, Zhangqian;  Lu, Wei;  Wu, Jing;  Luo, Feihong
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/26
Genetic and functional analysis of two missense DUOX2 mutations in congenital hypothyroidism and goiter 期刊论文
2018, 卷号: 9, 期号: 4, 页码: 4366-4374
作者:  Liu, Shiguo;  Zhang, Wenhui;  Zhang, Liqin;  Zou, Hui;  Lu, Kunna
收藏  |  浏览/下载：2/0  |  提交时间：2020/01/03
Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population 期刊论文
2017, 卷号: 8, 期号: 5, 页码: 8707-8716
作者:  Liu, Shiguo;  Wang, Xueqin;  Zou, Hui;  Ge, Yinlin;  Wang, Fang
收藏  |  浏览/下载：8/0  |  提交时间：2020/01/04
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl 期刊论文
2016, 卷号: 33, 期号: 3S Suppl 1, 页码: S82-S84
作者:  Zhou Lu;  Wang Tailing;  Wang Jiaqi
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/04

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