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Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|November 12, 2020
[Genetic analysis of a case with ectodermal dysplasia using whole exome sequencing]Junke Xia, Panlai Shi, Chen Chen, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|July 11, 2021
[Prenatal diagnosis and family analysis of 22q11.2 microdeletion syndrome]Duo Chen, Yaqin Hou, Panlai Shi, et al.
Human Mutation|May 20, 2021
Incorporation of exome-based CNV analysis makes trio-WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective studyYiwen Zhai, Zhanhui Zhang, Panlai Shi, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia|November 27, 2020
Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in ChinaYin Feng, Qianqian Li, Panlai Shi, et al.
Molecular Genetics & Genomic Medicine|November 18, 2022
Estimate of genetic variants using CNV-Seq for fetuses with oligohydramnios or polyhydramniosPanlai Shi, Yaqin Hou, Duo Chen, et al.
American Journal of Perinatology|November 4, 2024
Unexpected Findings of Duchenne Muscular Dystrophy in Prenatal Screening of Chromosome Abnormality Based on Cell-Free Fetal DNAGanye Zhao, Lina Liu, Panlai Shi, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|November 28, 2021
[Clinical phenotype and genetic analysis of MECP2 duplication syndrome]Duo Chen, Luxun Wang, Yaqin Hou, et al.
Steroids|June 7, 2021
Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiencyYanjie Xia, Panlai Shi, Junke Xia, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|August 22, 2020
[Detection of genomic copy number variations in patients with unexplained mental retardation/developmental delay by low coverage whole-genome sequencing]Hui Song, Panlai Shi, Yanhua Xiao, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|April 21, 2022
[Application of CNV-seq and chromosomal karyotyping in the prenatal diagnosis for carriers of balanced translocations]Suzhen Qu, Panlai Shi, Tianyuan Zhang, et al.
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