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Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences|November 26, 2025
[Association between Y chromosome microdeletions and tes-ticular development in male pediatric patients with congenital reproductive system diseases]Yan Liang, Yiqing Lyu, Yichen Huang, et al.
Frontiers in Genetics|January 26, 2023
Case report: Osteo-oto-hepato-enteric syndrome caused by UNC45A deficiencyRuixue Wang, Yizhong Wang, Ronghua Yu, et al.
Frontiers in Pediatrics|December 8, 2022
Case Report: Eosinophilic gastritis with pyloric stenosis in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndromeRonghua Yu, Yongmei Xiao, Wuhen Xu, et al.
Molecular Genetics & Genomic Medicine|October 10, 2020
De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent familiesXiaojun Tang, Xiaoping Lan, Xiaozhen Song, et al.
BMC Pediatrics|July 6, 2025
Liraglutide use in pediatric type 2 familial partial lipodystrophy caused by LMNA mutation: a case reportYouran Li, Ronghua Yu, Ting Song, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|March 6, 2019
[Mutation analysis of two pedigrees with suspected oculocutaneous albinism]Haiyun Ye, Xiaoping Lan, Tong Qiao, et al.
Frontiers in Pediatrics|June 11, 2021
Case Report: A Novel Compound Heterozygous Mutation in <i>IL-10RA</i> in a Chinese Child With Very Early-Onset Inflammatory Bowel DiseaseFang Dong, Fangfei Xiao, Ting Ge, et al.
Molecular Medicine Reports|October 27, 2018
A multiplex ligation‑dependent probe amplification‑based next‑generation sequencing approach for the detection of copy number variations in the human genomeYongchen Yang, Chaoran Xia, Zaiwei Zhou, et al.
Genes & Genomics|April 28, 2022
Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiencyXiaojun Tang, Wuhen Xu, Xiaozhen Song, et al.
Molecular Neurobiology|August 18, 2023
Application of a Multiplex Ligation-Dependent Probe Amplification-Based Next-Generation Sequencing Approach for the Detection of Pathogenesis of Duchenne Muscular Dystrophy and Spinal Muscular Atrophy Caused by Copy Number AberrationsYongchen Yang, Chaoran Xia, Xiaozhen Song, et al.
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