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Frontiers in Genetics|April 1, 2022
Case Report: Be Aware of "New" Features of Niemann-Pick Disease: Insights From Two Pediatric CasesFan Chen, Shan Guo, Xuesong Li, et al.BMC Neurology|October 22, 2018
Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IEWenxia Zheng, Zhenxing Yan, Rongni He, et al.Orphanet Journal of Rare Diseases|August 16, 2018
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patientsLiang Wang, Victor Wei Zhang, Shaoyuan Li, et al.European Journal of Obstetrics, Gynecology, and Reproductive Biology|June 6, 2020
Clinical application of medical exome sequencing for prenatal diagnosis of fetal structural anomaliesMin Chen, Jingsi Chen, Chunli Wang, et al.Immunobiology|September 23, 2020
B-lymphocyte deficiency and recurrent respiratory infections in a 6-month-old female infant with mosaic monosomy 7Kailin Mai, Xiaowen Chen, Chunli Wang, et al.Molecular Genetics & Genomic Medicine|November 29, 2023
The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletionsYang Zhao, Yue Hou, Xutong Zhao, et al.Human Mutation|September 13, 2014
Mutation Update for UBE3A variants in Angelman syndromeBekim Sadikovic, Priscilla Fernandes, Victor Wei Zhang, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 18, 2012
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous originJing Wang, Hong Cui, Ni-Chung Lee, et al.Journal of Assisted Reproduction and Genetics|August 1, 2025
Screening of triploid in miscarriage tissues using medium-coverage whole genome sequencing with a three-algorithm integrated approachJiayong Zheng, Qian Zhang, Lei Xu, et al.Frontiers in Genetics|February 5, 2025
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsyHuafang Zou, Qian Zhang, Jianxiang Liao, et al.Pageof 11