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Liver International : Official Journal of the International Association for the Study of the Liver|March 8, 2022
The utility of hierarchical genetic testing in paediatric liver diseaseFuchuan Wang, Yaqi Li, Sen Zhao, et al.Cell Reports Methods|January 11, 2024
SIGMA leverages protein structural information to predict the pathogenicity of missense variantsHengqiang Zhao, Huakang Du, Sen Zhao, et al.Orphanet Journal of Rare Diseases|September 16, 2020
Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosisZefu Chen, Zihui Yan, Chenxi Yu, et al.American Journal of Human Genetics|January 22, 2022
PhenoApt leverages clinical expertise to prioritize candidate genes via machine learningZefu Chen, Yu Zheng, Yongxin Yang, et al.Frontiers in Genetics|April 1, 2022
Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural ArachnodactylyLiying Sun, Yingzhao Huang, Sen Zhao, et al.Orphanet Journal of Rare Diseases|October 15, 2020
Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variantsWen Tian, Yingzhao Huang, Liying Sun, et al.Journal of Medical Internet Research|March 20, 2026
Scalable and Robust Artificial Intelligence for Spine Alignment Assessment: Multicenter Study Enabled by Real-Time Data TransformationGuilin Chen, Nan Meng, Yipeng Zhuang, et al.Journal of Human Genetics|January 13, 2022
A genotype-first analysis in a cohort of Mullerian anomalyWeijie Tian, Na Chen, Yang Ye, et al.Molecular Therapy. Nucleic Acids|June 7, 2021
Deciphering the mutational signature of congenital limb malformationsLiying Sun, Yingzhao Huang, Sen Zhao, et al.Yi Chuan = Hereditas|March 11, 2025
Expert consensus on clinical genome sequencing interpretation and reportingYulan Lu, Guozhuang Li, Yaqiong Wang, et al.Pageof 4