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Pediatric Nephrology (Berlin, Germany)|April 8, 2024
Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndromeRong Du, Chengcheng Zhou, Shehong Chen, et al.
American Journal of Medical Genetics. Part A|June 8, 2019
Clinical features and mutational analysis in 114 young children with Wilson disease from South ChinaXiuzhen Li, Zhikun Lu, Yunting Lin, et al.
Orphanet Journal of Rare Diseases|November 12, 2025
Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern ChinaHuiying Sheng, Cuili Liang, Jing Cheng, et al.
Human Molecular Genetics|April 10, 2016
5-Hydroxymethylation-associated epigenetic modifiers of Alzheimer's disease modulate Tau-induced neurotoxicityAlison I Bernstein, Yunting Lin, R Craig Street, et al.
Metabolism: Clinical and Experimental|February 12, 2019
A novel GTPCH deficiency mouse model exhibiting tetrahydrobiopterin-related metabolic disturbance and infancy-onset motor impairmentsXiaoling Jiang, Huazhen Liu, Yongxian Shao, et al.
Molecular Therapy. Methods & Clinical Development|March 19, 2025
Evaluation of efficacy and safety of AAV8-ΔC4ATP7B gene therapy in a mutant mouse model of Wilson's diseaseChunhua Zeng, Yunting Lin, Xinshuo Lu, et al.
Bioactive Materials|March 18, 2024
Self-adaptive pyroptosis-responsive nanoliposomes block pyroptosis in autoimmune inflammatory diseasesKaiwang Xu, Huang Yang, Jinghua Fang, et al.
Advanced Materials (Deerfield Beach, Fla.)|July 31, 2024
Pyroptotic-Spatiotemporally Selective Delivery of siRNA against Pyroptosis and Autoimmune DiseasesZongyou Pan, Kaiwang Xu, Guanrui Huang, et al.
Brain : a Journal of Neurology|June 2, 2021
In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsyNa Li, Pei Zhou, Hongmei Tang, et al.
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