Showing results (11-20 of 27) with videos related to
Sort By:
Pageof 3
Gene|May 5, 2015
Rare intracranial cholesterol deposition and a homozygous mutation of LDLR in a familial hypercholesterolemia patientHaoxian Li, Yanghui Zhang, Xianda Wei, et al.Scientific Reports|March 22, 2017
A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomaliesRuiyu Ma, Linbei Deng, Yan Xia, et al.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.Frontiers in Genetics|January 4, 2024
Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature reviewXianda Wei, Xu Zhou, BoBo Xie, et al.Genetics Research|August 4, 2025
49, XXXYY: Parental Origin, Occurrence, and Clinical PhenotypesYufang Du, Liangrong Liao, Xianda Wei, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|August 12, 2018
[Novel mutations of XPC gene detected in a family affected with xeroderma pigmentosum group C]Lijuan Wang, Sexin Huang, Jie Li, et al.Frontiers in Genetics|September 2, 2025
The rare hemoglobin variants Hb O-Arab and Hb D-Punjab identified in population-based genetic screening throughout Guangxi, ChinaChunrong Gui, Zifeng Cheng, Yongsheng Chen, et al.Journal of Human Genetics|January 13, 2017
Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated casesXiaomei Luo, Yongyi Zou, Bo Tan, et al.Journal of Thrombosis and Haemostasis : JTH|September 11, 2024
Clinical validation and application of targeted long-range polymerase chain reaction and long-read sequencing-based analysis for hemophilia: experience from a hemophilia treatment center in ChinaMeizhen Shi, Yunting Ma, Xianwei Peng, 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.Pageof 3