Variant analysis of 92 Chinese Han families with hearing loss by Xiaohua Jin, Shasha Huang, Lisha An, Chuan Zhang, Pu Dai, Huafang Gao, Xu Ma

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A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome by Yue Shen, Chao Lu, Tingting Cheng, Zongfu Cao, Cuixia Chen, Xu Ma, Huafang Gao, Minna Luo

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Integrated analysis reveals FLI1 regulates the tumor immune microenvironment via its cell-type-specific expression and transcriptional regulation of distinct target genes of immune... by Jianying Pei, Ying Peng, Kexin Ma, Chunyan Lan, Tingting Zhang, Yan Li, Xiaofang Chen, Huafang Gao

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Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS by Yousheng Yan, Xiaohua Jin, Xing Wang, Chuan Zhang, Qinhua Zhang, Lei Zheng, Xuan Feng, Shengju Hao, Huafang Gao, Xu Ma

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Establishment of potential reference measurement procedure and reference materials for EML4-ALK fusion variants measurement by Yi Yang, Yu Zhang, Shujun Zhou, Xia Wang, Chunyan Niu, Yongzhuo Zhang, Huafang Gao, Xiaohua Jin, Shangjun Wang, Meihong Du, Xiaoyan Cheng, Lingxiang Zhu, Lianhua Dong

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Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome by Yue Shen, Hao Wang, Zhimin Liu, Minna Luo, Siyu Ma, Chao Lu, Zongfu Cao, Yufei Yu, Ruikun Cai, Cuixia Chen, Qian Li, Huafang Gao, Yun Peng, Baoping Xu, Xu Ma

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Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome by Minna Luo, Li Cao, Zongfu Cao, Siyu Ma, Yue Shen, Di Yang, Chao Lu, Zaisheng Lin, Zhimin Liu, Yufei Yu, Ruikun Cai, Cuixia Chen, Huafang Gao, Xueyan Wang, Muqing Cao, Xu Ma

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