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BMC Medical Genetics|November 9, 2016
Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndromeHu Tan, Libin Mei, Yanru Huang, et al.
The Journal of Molecular Diagnostics : JMD|January 25, 2025
Association of Mitochondrial DNA Copy Number in Peripheral Blood with Risk and Prognosis in Acute Aortic SyndromeChun Yin, Ying Wang, Hao Yang, et al.
Gene|October 9, 2024
Effects of Carrier's sex on the outcome of embryos and pregnancies in 412 couples undergoing preimplantation genetic testing for structural rearrangementsHu Tan, Qianwen Huang, Dun Liu, et al.
Eye (London, England)|April 27, 2018
Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysisXigui Long, Yanru Huang, Hu Tan, et al.
JACC. Case Reports|December 5, 2025
Ultra-High Density Mapping of Ventricular Tachycardia in a Patient With Arrhythmogenic Right Ventricular Cardiomyopathy: How to Precisely "Pinpoint the Culprit"Jie Yang, Yi Zhang, Bo Zhang, et al.
Gene|April 4, 2015
Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic ricketsYanru Huang, Libin Mei, Qian Pan, et al.
International Journal of Cardiology|February 2, 2024
Effect of ubiquinol on electrophysiology during high-altitude acclimatization and de-acclimatization: A substudy of the Shigatse CARdiorespiratory fitness (SCARF) randomized clinical trialZhen Liu, Jie Yang, Bingjie Yang, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|November 20, 2016
Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIIIYanru Huang, Libin Mei, Weigang Lv, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|March 5, 2020
[Clinical practice guidelines for Duchenne muscular dystrophy]Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Hu Tan, Desheng Liang, et al.
American Journal of Medical Genetics. Part A|March 31, 2016
De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature reviewPu Yang, Hu Tan, Yan Xia, et al.
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