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Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|February 9, 2018
[Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II]Lei Zheng, Yousheng Yan, Xue Chen, et al.BMC Pregnancy and Childbirth|December 20, 2024
Role of copy number variation analysis in prenatally diagnosed Blake's pouch cystCuixia Guo, Lijuan Sun, Yan Liu, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|May 6, 2019
[Identification of a novel PAX6 mutation in a sporadic case with congenital aniridia]Chuan Zhang, Shengju Hao, Qinghua Zhang, et al.Frontiers in Genetics|September 2, 2025
A retrospective analysis of 38,652 amniotic fluid karyotypeJianyu Ren, Xiaojiao Guan, Wenzhe Lv, et al.Annals of Clinical and Laboratory Science|March 14, 2018
Five Novel <i>COL7A1</i> Gene Mutations in Three Chinese Patients with Recessive Dystrophic Epidermolysis BullosaYousheng Yan, Zhaoyan Meng, Shengju Hao, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|January 3, 2024
[An evaluation of carrier detection for Spinal muscular atrophy using digital PCR assay]Yousheng Yan, Chianru Tan, Meng Zhang, et al.Analytical and Bioanalytical Chemistry|September 6, 2019
Evaluation of droplet digital PCR for non-invasive prenatal diagnosis of phenylketonuriaYousheng Yan, Fang Wang, Chuan Zhang, et al.Metabolic Brain Disease|February 13, 2019
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variantsYousheng Yan, Chuan Zhang, Xiaohua Jin, et al.Journal of Medical Internet Research|June 18, 2025
Performance of ChatGPT-4o and Four Open-Source Large Language Models in Generating Diagnoses Based on China's Rare Disease Catalog: Comparative StudyWei Zhong, YiFan Liu, Yan Liu, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|December 3, 2014
[The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family]Yousheng Yan, Shengju Hao, Fengxia Yao, et al.Pageof 4