Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1 di Xinrong Zhang, Xinrong Zhang, Xinrong Zhang, Jiebin Wu, Jiebin Wu, Jianteng Zhou, Jie Liang, Jie Liang, Jie Liang, Yu Han, Yu Han, Yu Han, Yunmeng Qi, Yunmeng Qi, Yunmeng Qi, Tao Zhu, Dejian Yuan, Zuobin Zhu, Zuobin Zhu, Jingfang Zhai, Jingfang Zhai, Jingfang Zhai, Jingfang Zhai

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Genotype-phenotype correlations in a fetus with Kleefstra syndrome di Xuezhen Wang, Jiebin Wu, Min Pang, Ying Liu, Jingfang Zhai

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45, X/ 46, X, psu idic (Y) (q11.2) Mosaicism in a Primary Amenorrhea Girl with Swyer Syndrome di Yu Han, Jiebin Wu, Fangfang Tan, Jing Sha, Bei Zhang, Jingfang Zhai, Xuezhen Wang

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Efficiency of copy number variation sequencing combined with karyotyping in fetuses with congenital heart disease and the following outcomes di Xuezhen Wang, Jing Sha, Yu Han, Min Pang, Min Liu, Mengna Liu, Bei Zhang, Jingfang Zhai

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