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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.
Medical Image Analysis|June 26, 2026
Beyond the LUMIR challenge: The pathway to foundational registration modelsJunyu Chen, Shuwen Wei, Joel Honkamaa, et al.
IEEE Transactions on Medical Imaging|January 1, 2026
Benchmark of Segmentation Techniques for Pelvic Fracture in CT and X-Ray: Summary of the PENGWIN 2024 ChallengeYudi Sang, Yanzhen Liu, Sutuke Yibulayimu, et al.
International Journal of Radiation Oncology, Biology, Physics|May 27, 2023
Operational Ontology for Oncology (O3): A Professional Society-Based, Multistakeholder, Consensus-Driven Informatics Standard Supporting Clinical and Research Use of Real-World Data From Patients Treated for CancerCharles S Mayo, Mary U Feng, Kristy K Brock, et al.
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