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

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A multiplex droplet digital PCR assay for non-invasive prenatal testing of fetal aneuploidies von Tan, Chianru, Chen, Xihua, Wang, Fang, Wang, Dong, Cao, Zongfu, Zhu, Xiurui, Lu, Chao, Yang, Wenjun, Gao, Na, Gao, Huafang, Guo, Yong, Zhu, Lingxiang

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

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Increased Incidence of Mitochondrial Cytochrome C Oxidase 1 Gene Mutations in Patients with Primary Ovarian Insufficiency von Zhen, Xiumei, Wu, Bailin, Wang, Jian, Lu, Cuiling, Gao, Huafang, Qiao, Jie

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Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome von Luo, Minna, Lin, Zaisheng, Zhu, Tian, Jin, Minjun, Meng, Dan, He, Ruida, Cao, Zongfu, Shen, Yue, Lu, Chao, Cai, Ruikun, Zhao, Yong, Wang, Xueyan, Li, Hui, Wu, Shijing, Zou, Xuan, Luo, Guanjun, Cao, Li, Huang, Min, Jiao, Huike, Gao, Huafang, Sui, Ruifang, Zhao, Chengtian, Ma, Xu, Cao, Muqing

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

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Lectin RCA-I specifically binds to metastasis-associated cell surface glycans in triple-negative breast cancer von Zhou, Shu-Min, Cheng, Li, Guo, Shu-Juan, Wang, Yang, Czajkowsky, Daniel M, Gao, Huafang, Hu, Xiao-Fang, Tao, Sheng-Ce

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

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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 von Shen, Yue, Wang, Hao, Liu, Zhimin, Luo, Minna, Ma, Siyu, Lu, Chao, Cao, Zongfu, Yu, Yufei, Cai, Ruikun, Chen, Cuixia, Li, Qian, Gao, Huafang, Peng, Yun, Xu, Baoping, Ma, Xu

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Correction to: Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome von Luo, Minna, Lin, Zaisheng, Zhu, Tian, Jin, Minjun, Meng, Dan, He, Ruida, Cao, Zongfu, Shen, Yue, Lu, Chao, Cai, Ruikun, Zhao, Yong, Wang, Xueyan, Li, Hui, Wu, Shijing, Zou, Xuan, Luo, Guanjun, Cao, Li, Huang, Min, Jiao, Huike, Gao, Huafang, Sui, Ruifang, Zhao, Chengtian, Ma, Xu, Cao, Muqing

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

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Etiologic diagnosis of lower respiratory tract bacterial infections using sputum samples and quantitative loop-mediated isothermal amplification von Kang, Yu, Deng, Rui, Wang, Can, Deng, Tao, Peng, Peichao, Cheng, Xiaoxing, Wang, Guoqing, Qian, Minping, Gao, Huafang, Han, Bei, Chen, Yusheng, Hu, Yinghui, Geng, Rong, Hu, Chengping, Zhang, Wei, Yang, Jingping, Wan, Huanying, Yu, Qin, Wei, Liping, Li, Jiashu, Tian, Guizhen, Wang, Qiuyue, Hu, Ke, Wang, Siqin, Wang, Ruiqin, Du, Juan, He, Bei, Ma, Jianjun, Zhong, Xiaoning, Mu, Lan, Cai, Shaoxi, Zhu, Xiangdong, Xing, Wanli, Yu, Jun, Deng, Minghua, Gao, Zhancheng

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

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Spatially lipidomic characterization of patient-derived organoids by whole-mount autofocusing SMALDI mass spectrometry imaging von Lan, Chunyan, Peng, Ying, Zuo, Hengtong, Pei, Jianying, Li, Yue, Zhang, Ting, Wu, Hainan, Du, Liyuan, Zeng, Chang, Zhao, Hongmei, Chen, Xiaofang, Gao, Huafang

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Predicting hypoglycemic drugs of type 2 diabetes based on weighted rank support vector machine von Wang, Xinye, Yang, Yi, Xu, Yitian, Chen, Qian, Wang, Hongmei, Gao, Huafang

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Establishment of genomic RNA reference materials for BCR-ABL1 P210 measurement von Yang, Yi, Wang, Xia, Niu, Chunyan, Zhou, Shujun, Gao, Huafang, Jin, Xiaohua, Wang, Shangjun, Du, Meihong, Cheng, Xiaoyan, Zhu, Lingxiang, Dong, Lianhua

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Novel compound heterozygous variants in ARL13B lead to Joubert syndrome von Lin, Zaisheng, Shen, Yue, Li, Yan, Lu, Chao, Zhu, Ying, He, Ruida, Cao, Zongfu, Yin, Zhe, Gao, Huafang, Guo, Bin, Ma, Xu, Cao, Muqing, Luo, Minna

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Novel CRISPR/Cas12a-based genetic diagnostic approach for SLC26A4 mutation-related hereditary hearing loss von Jin, Xiaohua, Zhang, Lu, Wang, Xinjie, An, Lisha, Huang, Shasha, Dai, Pu, Gao, Huafang, Ma, Xu

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Prenatal diagnosis of β-thalassemia by chip-based capillary electrophoresis von Hu, Hua, Li, Caixia, Xiong, Qiang, Gao, Huafang, Li, Yan, Chang, Qing, Liang, Zhiqing

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Noninvasive and Accurate Detection of Hereditary Hearing Loss Mutations with Buccal Swab Based on Droplet Digital PCR von Wang, Fang, Zhu, Lingxiang, Liu, Baoxia, Zhu, Xiurui, Wang, Nan, Deng, Tao, Kang, Dongyang, Pan, Junmin, Yang, Wenjun, Gao, Huafang, Guo, Yong

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