An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families

by Ting Guo, Zhi-Ping Tan, Hua-Mei Chen, Dong-yuan Zheng, Lv liu, Xin-Gang Huang, Ping Chen, Hong Luo, Yi-Feng Yang
Published 2017-08-01

Case Report: Mutant SCN9A Susceptible to Charcot Neuroarthropathy in a Patient With Congenital Insensitivity to Pain

by Xiao-hui Xie, Jian-guang Tang, Zhong-hua Liu, Shui-jiao Peng, Zhuang-zhuang Yuan, Heng Gu, Yi-qiao Hu, Zhi-ping Tan
Published 2021-07-01

A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient

by Zhuang-Zhuang Yuan, Zhuang-Zhuang Yuan, Zhuang-Zhuang Yuan, Liang-Liang Fan, Liang-Liang Fan, Zi-Chen Jiang, Yi-Feng Yang, Zhi-Ping Tan
Published 2020-11-01

Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome

by Zhuang-Zhuang Yuan, Zhuang-Zhuang Yuan, Zhuang-Zhuang Yuan, Xiao-Hui Xie, Heng Gu, Wei-Zhi Zhang, Yi-Qiao Hu, Yi-Feng Yang, Zhi-Ping Tan
Published 2021-08-01

Rare de novo copy number variants in patients with congenital pulmonary atresia.

by Li Xie, Jin-Lan Chen, Wei-Zhi Zhang, Shou-Zheng Wang, Tian-Li Zhao, Can Huang, Jian Wang, Jin-Fu Yang, Yi-Feng Yang, Zhi-Ping Tan
Published 2014-01-01

CircRNA Microarray Profiling Reveals hsa_circ_0058493 as a Novel Biomarker for Imatinib-Resistant CML

by An-Ni Zhong, An-Ni Zhong, An-Ni Zhong, Yi Yin, Yi Yin, Bing-Jie Tang, Bing-Jie Tang, Lei Chen, Lei Chen, Hong-Wei Shen, Zhi-Ping Tan, Wen-Qun Li, Wen-Qun Li, Qun He, Bao Sun, Bao Sun, Yan Zhu, Yan Zhu, Yan Zhu, Jie Xiao, Jie Xiao, Zhi-Ping Jiang, Ping Xu, Ping Xu
Published 2021-09-01