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Brain & Development|September 7, 2020
Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi provinceYilun Tao, Dong Han, Huiyi Shen, et al.
Frontiers in Genetics|October 1, 2021
Case Report: Complete Maternal Uniparental Disomy of Chromosome 2 With a Novel <i>UNC80</i> Splicing Variant c.5609-4G> A in a Chinese Patient With Infantile Hypotonia With Psychomotor Retardation and Characteristic Facies 2Yilun Tao, Dong Han, Yiju Wei, et al.
BMC Pregnancy and Childbirth|August 13, 2025
A retrospective analysis of 6942 amniocentesis casesQingsha An, Yuxiao Huang, Feifei Yu, et al.
Medicine|August 16, 2024
Novel GJB2 mutation c.188delT compound with c.235delC causing non-syndromic hearing loss in a Chinese family: A case reportYilun Tao, Zhipeng Hu, Dong Han, et al.
Frontiers in Genetics|June 20, 2022
Combining Z-Score and Maternal Copy Number Variation Analysis Increases the Positive Rate and Accuracy in Non-Invasive Prenatal TestingLiheng Chen, Lihong Wang, Zhipeng Hu, et al.
BMC Pregnancy and Childbirth|May 1, 2026
Prenatal SNP-array chromosomal microarray analysis in 3,549 pregnancies: indication-specific yields and clinical implicationsYilun Tao, Yuefeng Wei, Zerong Yao, et al.
Frontiers in Neurology|May 15, 2023
Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in <i>PANK2</i> gene in a Chinese patient: a case report and literature reviewYilun Tao, Chen Zhao, Dong Han, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|June 3, 2020
Identification of a novel homozygous nonsense variant in a Chinese patient with ethylmalonic encephalopathy and a genotype-phenotype spectrum reviewYilun Tao, Dong Han, Xiyuan Li, et al.
Scientific Reports|January 20, 2024
Novel JAG1 variants leading to Alagille syndrome in two Chinese casesXiufang Feng, Jiangyuan Ping, Shan Gao, et al.
Human Mutation|April 17, 2026
<i>ALPL</i> Mutations With Dominant-Negative Effect in Infantile Hypophosphatasia Monozygotic TwinsLuna Hao, Na Huang, Yilun Tao, et al.
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