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CORC

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The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine 期刊论文
MOLECULAR GENETICS AND METABOLISM REPORTS, 2018, 卷号: 17, 页码: 46-52
作者:  Li, Hong;  Zhao, Lihua;  Singh, Rani;  Ham, J. Nina;  Fadoju, Doris O.
收藏  |  浏览/下载：85/0  |  提交时间：2019/01/08
Identification of LBX2 as a novel causal gene of atrial septal defect 期刊论文
INTERNATIONAL JOURNAL OF CARDIOLOGY, 2018, 卷号: 265, 期号: 1, 页码: 188-194
作者:  Wang, Jing;  Luo, Jing;  Chenc, Qiuhong;  Wang, Xi;  He, Jiangyan
收藏  |  浏览/下载：52/0  |  提交时间：2019/07/03
Clinical and Physiological Characterization of Elevated Plasma Glucagon-Like Peptide-1 Levels (Hyperglipemia) in a Dipeptidyl Peptidase IV Mutation Carrier 期刊论文
FRONTIERS IN ENDOCRINOLOGY, 2018, 卷号: 9
作者:  Zhao, Dandan;  Zhao, Shaoqian;  Wang, Xiao;  Su, Mingbo;  Liu, Wen
收藏  |  浏览/下载：59/0  |  提交时间：2019/01/08
Whole-exome sequencing improves genetic testing accuracy in pulmonary artery hypertension 期刊论文
PULMONARY CIRCULATION, 2018, 卷号: 8, 期号: 2
作者:  Zeng, Xiaofang;  Lian, Tianyu;  Lin, Jianhui;  Li, Suqi;  Zheng, Haikuo
收藏  |  浏览/下载：11/0  |  提交时间：2019/12/05
Novel missense mutation in PTPN22 in a Chinese pedigree with Hashimoto's thyroiditis 期刊论文
BMC ENDOCRINE DISORDERS, 2018, 卷号: 18
作者:  Qi, Anhui;  Zhang, Siyang;  Wu, Jinyi;  Wang, Binbin;  Yang, Ping
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05
Whole-Exome Sequencing Analysis of One Patient with Synchronous AAH, MIA and IA 会议论文
作者:  Ma, K.;  Xu, Y.;  Cai, Y.;  Wang, X.
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/05
WHOLE-EXOME SEQUENCING REVEALING DE NOVO HETEROZYGOUS VARIANT OF KCNT1 IN A TWIN DISCORDANT FOR BENIGN EPILEPSY WITH CENTROTEMPORAL SPIKES 期刊论文
JOURNAL OF PAEDIATRICS AND CHILD HEALTH, 2018, 卷号: 54, 期号: 6
作者:  Shi, Xiuyu;  Chen, Jun;  Lu, Qian;  He, Fusheng;  Zhou, Jiaxiu
收藏  |  浏览/下载：11/0  |  提交时间：2019/12/05
Clinical Characteristics and Genetic Causes of Infantile Exocrine Pancreatic Insufficiency in Chinese Patients: Study From a Tertiary Care Center 期刊论文
PANCREAS, 2018, 卷号: 47, 期号: 10
作者:  Ye, Ziqing;  Zhou, Ying;  Huang, Ying;  Sun, Hua;  Wang, Huijun
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/05
Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathy 期刊论文
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2018, 卷号: 61, 期号: 8
作者:  Zhou, Nianwei;  Qin, Shengmei;  Li, Yili;  Tang, Lu;  Zha, Weipeng
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/05
Whole-exome sequencing to identify novel mutations of nevoid basal cell carcinoma syndrome in a Chinese population 期刊论文
CANCER BIOMARKERS, 2018, 卷号: 21, 期号: 1
作者:  Lu, Nanhang;  Wang, Jinzeng;  Zhu, Bijun;  Zhang, Miaomiao;  Qi, Fazhi
收藏  |  浏览/下载：11/0  |  提交时间：2019/12/05

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