A heterozygous mutation in RPGR associated with X‐linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX)
Zhou, Qi, Yao, Fengxia, Wang, Feng, Li, Hui, Chen, Rui, Sui, Ruifang
Published in American journal of medical genetics. Part A (01.01.2018)
Published in American journal of medical genetics. Part A (01.01.2018)
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Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study
Wei, Xiaoming, Dai, Yi, Yu, Ping, Qu, Ning, Lan, Zhangzhang, Hong, Xiafei, Sun, Yan, Yang, Guanghui, Xie, Shuqi, Shi, Quan, Zhou, Hanlin, Zhu, Qian, Chu, Yuxing, Yao, Fengxia, Wang, Jinming, He, Jingni, Yang, Yun, Liang, Yu, Yang, Yi, Qi, Ming, Yang, Ling, Wang, Wei, Wu, Haitao, Duan, Jing, Shen, Cheng, Wang, Jun, Cui, Liying, Yi, Xin
Published in European journal of human genetics : EJHG (01.01.2014)
Published in European journal of human genetics : EJHG (01.01.2014)
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Genotype–Phenotype Correlation Analysis and Identification of a Novel SRD5A2 Mutation in Four Unrelated Chinese Patients with 5α-Reductase Deficiency
Gui, Ting, Yao, Fengxia, Yang, Xinzhuang, Wang, Xi, Nie, Min, Wu, Xueyan, Tian, Qinjie
Published in International journal of general medicine (01.08.2022)
Published in International journal of general medicine (01.08.2022)
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CYP17A1 mutations identified in 17 Chinese patients with 17α-hydroxylase/17,20-lyase deficiency
Yao, Fengxia, Huang, Shangzhi, Kang, Xiaodi, Zhang, Weimin, Wang, Peng, Tian, Qinjie
Published in Gynecological endocrinology (01.01.2013)
Published in Gynecological endocrinology (01.01.2013)
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Copy number variation sequencing-based prenatal diagnosis using cell-free fetal DNA in amniotic fluid
Qi, Qingwei, Lu, Sijia, Zhou, Xiya, Yao, Fengxia, Hao, Na, Yin, Guangjun, Li, Wenhui, Bai, Junjie, Li, Ning, Cram, David S.
Published in Prenatal diagnosis (01.06.2016)
Published in Prenatal diagnosis (01.06.2016)
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Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency
Tian, Qinjie, Yao, Fengxia, Zhang, Yiwen, Tseng, Hung, Lang, Jinghe
Published in Gynecological endocrinology (01.03.2012)
Published in Gynecological endocrinology (01.03.2012)
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De novo Mutations in the Cone-rod Homeobox Gene Associated with Leber Congenital Amaurosis in Chinese Patients
Zou, Xuan, Yao, Fengxia, Liang, Xiaofang, Xu, Fei, Li, Hui, Sui, Ruifang, Dong, Fangtian
Published in Ophthalmic genetics (01.03.2015)
Published in Ophthalmic genetics (01.03.2015)
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Immunoglobulin is valuable in the differential diagnosis of primary biliary cholangitis, hepatitis E and cirrhosis
XING Xuemei, YANG Jianrui, LI Zhijun, CHEN Yajuan, YAO Fengxia, LIU Zheng
Published in Ji chu yi xue yu lin chuang = Jichu yixue yu linchuang = Basic medical sciences and clinics (01.08.2023)
Published in Ji chu yi xue yu lin chuang = Jichu yixue yu linchuang = Basic medical sciences and clinics (01.08.2023)
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SNP Cutter: a comprehensive tool for SNP PCR–RFLP assay design
Zhang, Ruifang, Zhu, Zanhua, Zhu, Hongming, Nguyen, Tu, Yao, Fengxia, Xia, Kun, Liang, Desheng, Liu, Chunyu
Published in Nucleic acids research (01.07.2005)
Published in Nucleic acids research (01.07.2005)
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Genotyping of a Chinese family with 46,XX and 46,XY 17-hydroxylase deficiency
Tian, Qinjie, Yao, Fengxia, Sha, Guihua, Huang, Shangzhi, Tseng, Hung, Schindler, Adolf E.
Published in Gynecological endocrinology (01.01.2009)
Published in Gynecological endocrinology (01.01.2009)
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MutScreener: primer design tool for PCR-direct sequencing
Yao, Fengxia, Zhang, Ruifang, Zhu, Zanhua, Xia, Kun, Liu, Chunyu
Published in Nucleic acids research (01.07.2006)
Published in Nucleic acids research (01.07.2006)
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The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family
Yan, Yousheng, Hao, Shengju, Yao, Fengxia, Sun, Qingmei, Zheng, Lei, Zhang, Qinghua, Zhang, Chuan, Yang, Tao, Huang, Shangzhi
Published in Zhonghua yi xue yi chuan xue za zhi (01.12.2014)
Published in Zhonghua yi xue yi chuan xue za zhi (01.12.2014)
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Analysis of large deletion of phenylalanine hydroxylase gene in Chinese patients with phenylketonuria
Yan, Y S, Yao, F X, Hao, S J, Zhang, C, Chen, X, Feng, X, Yang, T, Huang, S Z
Published in Zhong hua yi xue za zhi (12.04.2016)
Published in Zhong hua yi xue za zhi (12.04.2016)
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