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Medscience|February 24, 2026
Differential genetic analysis of ectrodactyly in a Fanconi anemia pedigree with FANCA mutationsJian-Hui Zhang, Zi-Yan Xu, Hong-Ping Yu, et al.Gene|September 25, 2025
Genetic analysis of a family with skeletal muscle ion channelopathy and hereditary spastic paraplegia type 7 caused by SCN4A and SPG7 double mutationsHong-Ping Yu, Zi-Yan Xu, Meng-Qian Wu, et al.Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|March 17, 2026
Phosphoproteomics elucidates the functional impact of the PTPN11 p.Asn308Ser variant in a Noonan syndrome pedigreeWei-Jing Xu, Li-Jun Xie, Wen-Jun Chen, et al.Gene|August 1, 2026
Clinical and genetic analysis of Liver-Predominant ornithine transcarbamylase deficiency caused by a novel de novo OTC sequence variant in a female childAn-Kang Zhu, Shi-Ni Cai, Chun-Hui Hu, et al.Gene|November 16, 2025
De novo PKD1 splicing and missense variants in two familial ADPKD: Molecular characterization and genetic counseling implicationsJuan Zhu, Zi-Yan Xu, Hong-Ping Yu, et al.Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|February 15, 2026
Clinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutationShu-Fang Wu, Zi-Yan Xu, Li-Jun Xie, et al.Gene|December 8, 2025
A de novo INSR variant in Type A insulin resistance syndrome: familial investigation and genetic implicationsXin Lin, Zi-Yan Xu, Li-Jun Xie, et al.The Journal of Infectious Diseases|May 9, 2020
A Peptide-Based Magnetic Chemiluminescence Enzyme Immunoassay for Serological Diagnosis of Coronavirus Disease 2019Xue-Fei Cai, Juan Chen, Jie- Li Hu, et al.Pageof 13