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Lipids in Health and Disease|January 19, 2022
Features of chinese patients with sitosterolemiaZhizi Zhou, Xueying Su, Yanna Cai, et al.
Neurobiology of Disease|June 10, 2019
Amyotrophic Lateral Sclerosis-associated GGGGCC repeat expansion promotes Tau phosphorylation and toxicityHua He, Wen Huang, Ruoxi Wang, et al.
European Journal of Pharmacology|February 11, 2024
Mechanisms underlying the efficacy and limitation of dopa and tetrahydrobiopterin therapies for the deficiency of GTP cyclohydrolase 1 revealed in a novel mouse modelXiaoling Jiang, Yongxian Shao, Yongqiang Liao, et al.
Plos One|February 13, 2016
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar AtaxiaRanhui Duan, Yuting Shi, Li Yu, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|January 15, 2019
Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variantsWen Zhang, Ting Xie, Huiying Sheng, et al.
Stem Cell Research & Therapy|January 16, 2024
Comparison of the ability of exosomes and ectosomes derived from adipose-derived stromal cells to promote cartilage regeneration in a rat osteochondral defect modelTengjing Xu, Xinning Yu, Kaiwang Xu, et al.
Frontiers in Genetics|April 7, 2023
Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndromeYunting Lin, Xiaohong Chen, Bobo Xie, et al.
Pediatric Diabetes|January 21, 2020
Molecular diagnosis of maturity-onset diabetes of the young in a cohort of Chinese childrenAijing Xu, Yunting Lin, Huiying Sheng, et al.
BMC Pediatrics|November 26, 2019
Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature reviewXiaojian Mao, Sichi Liu, Yunting Lin, et al.
BMC Musculoskeletal Disorders|March 8, 2020
Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature reviewChunhua Zeng, Yunting Lin, Zhikun Lu, et al.
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