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Journal of Pediatric Endocrinology & Metabolism : JPEM|June 3, 2018
Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) geneYu Ding, Niu Li, Gouying Chang, et al.
Molecular Medicine Reports|March 4, 2016
Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiencyNiu Li, Juan Li, Yu Ding, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|March 24, 2024
Copy number variation sequencing for the products of conception: What is the optimal testing strategyYiyao Chen, Xu Han, Renyi Hua, et al.
Translational Pediatrics|May 13, 2022
Study of novel NARS2 variants in patient of combined oxidative phosphorylation deficiency 24Yi Zhang, Xiangyue Zhao, Yufei Xu, et al.
European Journal of Medical Genetics|May 1, 2018
Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG)Guoqiang Li, Yufei Xu, Xuyun Hu, et al.
Frontiers in Plant Science|September 11, 2024
Nitrogen and phosphorus additions alter soil N transformations in a Metasequoia glyptostroboides plantationYouzheng Zhang, Pengcheng Jiang, Yaolin Guo, et al.
European Journal of Medical Genetics|November 16, 2018
A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasiaCui Song, Niu Li, Xuyun Hu, et al.
Frontiers in Genetics|January 7, 2022
Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy CohortRuen Yao, Yunqing Zhou, Jie Tang, et al.
Pediatric Neurology|April 25, 2022
Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6Yi Zhang, Yafen Yu, Xiangyue Zhao, et al.
Medicine|October 19, 2018
Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromasYuchan Li, Jian Wang, Jingyan Tang, et al.
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