Search Results - Xiangdong Kong

Molecular delineation of de novo small supernumerary marker chromosomes in prenatal diagnosis, a retrospective study by Shuang Hu, Xiangdong Kong

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Prenatal diagnosis of 1408 foetuses at risk of DMD/BMD by MLPA and Sanger sequencing combined with STR linkage analysis by Chunxiao Hua, Lina Liu, Xiangdong Kong

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Case report: a Chinese girl like atypical Rubinstein-Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene by Zhouxian Bai, Gaopan Li, Xiangdong Kong

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Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China by Yingjie Sun, Xiangdong Kong, Zhenhua Zhao, Xuechao Zhao

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Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria by Shuang Hu, Shiyue Mei, Ning Liu, Xiangdong Kong

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Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family by Panlai Shi, Conghui Wang, Yuting Zheng, Xiangdong Kong

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Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton's tyrosine kinase (BTK) gene mut... by Shanshan Gao, Shuang Hu, Huikun Duan, Li Wang, Xiangdong Kong

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Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach by Ganye Zhao, Xiaofeng Wang, Lina Liu, Peng Dai, Xiangdong Kong

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A Chinese child with hyperpigmentation diagnosed with familial glucocorticoid deficiency type 1 using whole-exome sequencing by Junke Xia, Zhihui Jiao, Zhenhua Zhao, Jing Wu, Xiangdong Kong

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DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years by Xingjian Zhong, Siying Cui, Lina Liu, Yuxia Yang, Xiangdong Kong

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Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis by Wei Huang, Xiaofan Zhu, Gege Sun, Zhi Gao, Xiangdong Kong

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Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology by Zhouxian Bai, Yanchuan Xie, Lina Liu, Jingzhi Shao, Yuying Liu, Xiangdong Kong

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Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy by Xiangdong Kong, Xingjian Zhong, Lina Liu, Siying Cui, Yuxia Yang, Lingrong Kong

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Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China by Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng, Xiangdong Kong

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Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China by Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng, Xiangdong Kong

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siRNA-Loaded Hydroxyapatite Nanoparticles for <i>KRAS</i> Gene Silencing in Anti-Pancreatic Cancer Therapy by Dandan Luo, Xiaochun Xu, M. Zubair Iqbal, Qingwei Zhao, Ruibo Zhao, Jabeen Farheen, Quan Zhang, Peiliang Zhang, Xiangdong Kong

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Metformin Hydrochloride Significantly Inhibits Rotavirus Infection in Caco2 Cell Line, Intestinal Organoids, and Mice by Rui Zhang, Cui Feng, Dandan Luo, Ruibo Zhao, Perumal Ramesh Kannan, Yuebang Yin, Muhammad Zubair Iqbal, Yeting Hu, Xiangdong Kong

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