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Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|August 8, 2021
[Identification of variants in TNNI3 gene in two children with restrictive cardiomyopathy]Lijuan Jia, Yuanying Chen, Chanjuan Hao, et al.
Bioscience Reports|July 9, 2021
Biological implications of genetic variations in autism spectrum disorders from genomics studiesYue Zhang, Xuanshi Liu, Ruolan Guo, et al.
Pediatric Investigation|August 28, 2020
Novel <i>HMGCS2</i> pathogenic variants in a Chinese family with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiencyPengfei Zhang, Xuyun Hu, Ruolan Guo, et al.
Molecular Cytogenetics|January 1, 2020
A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiencyXuyun Hu, Jun Liu, Ruolan Guo, et al.
BMC Pediatrics|December 28, 2021
Case Report : Li-Fraumeni Syndrome with Central Nervous System Tumors in Two SiblingsZishi Fang, Yan Su, Hailang Sun, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|March 6, 2026
Genetic screening of EIF2B genes reveals mutation spectrum and predicted prevalence of vanishing white matter disease in Chinese populationXiaoli Liu, Ruolan Guo, Zhan Qi, et al.
Frontiers in Medicine|August 29, 2022
Molecular identification of T-box transcription factor 6 and prognostic assessment in patients with congenital scoliosis: A single-center studyWenyan Zhang, Ziming Yao, Ruolan Guo, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 22, 2024
Clinical and genetic characteristics of RANBP2 mutations in children with acute necrotizing encephalopathyChaonan Fan, Chanjuan Hao, Kechun Li, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|September 20, 2023
[Clinical and genetic analysis of eight children with Primary hypertrophic cardiomyopathy]Qiqing Sun, Fangjie Wang, Linbo Su, et al.
Frontiers in Medicine|June 1, 2022
Evaluation of the Effects on Uninfected Pregnant Women and Their Pregnancy Outcomes During the COVID-19 Pandemic in Beijing, ChinaChongyi Hao, Feng Jin, Chanjuan Hao, et al.
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