Search Results - Jianlong Zhuang

Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region by Jianlong Zhuang, Junyu Wang, Nan Huang, Yu Zheng, Liangpu Xu

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Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study by Jianlong Zhuang, Qiulan Wei, Yuying Jiang, Shuhong Zeng, Haijuan Lou, Na Zhang, Chunnuan Chen

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Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn by Yiming Lin, Weihua Lin, Yanru Chen, Chunmei Lin, Zhenzhu Zheng, Jianlong Zhuang, Qingliu Fu

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Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China by Jianlong Zhuang, Chunnuan Chen, Yuying Jiang, Qi Luo, Shuhong Zeng, Chunling Lv, Yuanbai Wang, Wanyu Fu

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Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases by Yunsheng Ge, Jia Li, Jianlong Zhuang, Jian Zhang, Yanru Huang, Meihua Tan, Wei Li, Jiayan Chen, Yulin Zhou

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The Genetic Etiology Diagnosis of Fetal Growth Restriction Using Single-Nucleotide Polymorphism-Based Chromosomal Microarray Analysis by Yu'e Chen, Yingjun Xie, Yingjun Xie, Yuying Jiang, Qi Luo, Lijing Shi, Shuhong Zeng, Jianlong Zhuang, Guorong Lyu

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A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures by Jianlong Zhuang, Meihua Xie, Jianfeng Yao, Wanyu Fu, Shuhong Zeng, Yuying Jiang, Yuanbai Wang, Yingjun Xie, Gaoxiong Wang, Chunnuan Chen

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The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature Review by Jianlong Zhuang, Chunnuan Chen, Jia Li, Yuying Jiang, Junyu Wang, Yuanbai Wang, Shuhong Zeng, Yiming Lin, Yingjun Xie, Yingjun Xie

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Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing by Jianlong Zhuang, Chunnuan Chen, Yu'e Chen, Qi Luo, Yuanbai Wang, Yuying Jiang, Shuhong Zeng, Yingjun Xie, Yingjun Xie, Dongmei Chen

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Molecular analysis of a large novel deletion causing α+-thalassemia by Jianlong Zhuang, Jie Tian, Jitao Wei, Yu Zheng, Qianmei Zhuang, Yuanbai Wang, Qingyue Xie, Shuhong Zeng, Geng Wang, Yanchao Pan, Yuying Jiang

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