From glucose sensing to exocytosis: takes from maturity onset diabetes of the young von Samadli, Sama, Zhou, Qiaoli, Zheng, Bixia, Gu, Wei, Zhang, Aihua

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The spectrum of novel ABCB11 gene variations in children with progressive familial intrahepatic cholestasis type 2 in Pakistani cohorts von Riaz, Hafsa, Zheng, Bixia, Zheng, Yucan, Liu, Zhifeng, Gu, Hong-mei, Imran, Muhammad, Yaqoob, Tahir, Bhinder, Munir Ahmad, Zhang, Da-wei, Zahoor, Muhammad Yasir

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The polymorphic AluYb8 insertion in the MUTYH gene is associated with reduced type 1 protein expression and reduced mitochondrial DNA content von Guo, Wenwen, Zheng, Bixia, Cai, Zhenming, Xu, Lizhi, Guo, Dong, Cao, Lili, Wang, Yaping

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Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly von Wang, Chunli, Zhou, Wei, Zhang, Luyan, Fu, Luhan, Shi, Wei, Qing, Yan, Lu, Fen, Tang, Jian, Gao, Xiucheng, Zhang, Aihua, Jia, Zhanjun, Zhang, Yue, Zhao, Xiaoke, Zheng, Bixia

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Novel genotypes and phenotypes in Snijders Blok-Campeau syndrome caused by CHD3 mutations von Gao, Yuanyuan, Wang, Pei, Chen, Mengying, Pang, Kexin, Sun, Yifan, Zheng, Bixia, Li, Taisong, Zhang, Hongmei, Zhu, Min

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Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability von Li, Sinan, Zhang, Wenxin, Liang, Piao, Zhu, Min, Zheng, Bixia, Zhou, Wei, Wang, Chunli, Zhao, Xiaoke

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Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis von Zheng, Yucan, Guo, Hongmei, Chen, Leilei, Cheng, Weixia, Yan, Kunlong, Zhang, Zhihua, Li, Mei, Jin, Yu, Hu, Guorui, Wang, Chunli, Zhou, Chunlei, Zhou, Wei, Jia, Zhanjun, Zheng, Bixia, Liu, Zhifeng

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Wnt/β-Catenin Signaling and Congenital Abnormalities of Kidney and Urinary Tract von Yu, Cuicui, Zheng, Bixia, Zhang, Luyan, Zhang, Aihua, Jia, Zhanjun, Ding, Guixia

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Generation of patient-derived IPSC lines from a girl with Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by compound heterozygous GTPBP3 variants von Wang, Chunli, Yuan, Chang, Ji, Zhaoming, Yin, Jie, Zhang, Zhongman, Zhang, Han, Zheng, Bixia, Zhou, Wei, Yang, Shiwei

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A Comprehensive Analysis and Splicing Characterization of Naturally Occurring Synonymous Variants in the ATP7B Gene von Zhou, Xiaoying, Zhou, Wei, Wang, Chunli, Wang, Lan, Jin, Yu, Jia, Zhanjun, Liu, Zhifeng, Zheng, Bixia

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Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant von Yuan, Yeqing, Zhou, Qiaoli, Wang, Chunli, Zhou, Wei, Gu, Wei, Zheng, Bixia

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Novel Compound Heterozygous TMPRSS15 Gene Variants Cause Enterokinase Deficiency von Wang, Lan, Zhang, Dan, Fan, Cheng, Zhou, Xiaoying, Liu, Zhifeng, Zheng, Bixia, Zhu, Li, Jin, Yu

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Splicing Characterization of CLCNKB Variants in Four Patients With Type III Bartter Syndrome von Wang, Chunli, Han, Yuan, Zhou, Jiaran, Zheng, Bixia, Zhou, Wei, Bao, Huaying, Jia, Zhanjun, Zhang, Aihua, Huang, Songming, Ding, Guixia, Zhao, Fei

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PCDH19-Related Epilepsy in Early Onset of Chinese Male Patient: Case Report and Literature Review von Yang, Xiao, Chen, Jing, Zheng, BiXia, Liu, Xianyu, Cao, Zixuan, Wang, Xiaoyu

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Case report: Expansion of phenotypic and genotypic data in TENM3 -related syndrome: Report of two cases von Lu, Fen, Xu, Xin, Zheng, Bixia, Wang, Chunli, Zhou, Wei, Tang, Jian, Zhao, Xiaoke

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The application research of xTAG GPP multiplex PCR in the diagnosis of persistent and chronic diarrhea in children von Wang, Chunli, Zhou, Xiaoying, Zhu, Mengshu, Yin, Hanjun, Tang, Jiamei, Huang, Yan, Zheng, Bixia, Jin, Yu, Liu, Zhifeng

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The Spectrum of ACAN Gene Mutations in a Selected Chinese Cohort of Short Stature: Genotype-Phenotype Correlation von Wu, Su, Wang, Chunli, Cao, Qing, Zhu, Ziyang, Liu, Qianqi, Gu, Xinyan, Zheng, Bixia, Zhou, Wei, Jia, Zhanjun, Gu, Wei, Li, Xiaonan

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A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1 von Che, Ruochen, Wang, Chunli, Zheng, Bixia, Zhang, Xuejuan, Ding, Guixia, Zhao, Fei, Jia, Zhanjun, Zhang, Aihua, Huang, Songming, Feng, Quancheng

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A novel gain‐of‐function STAT3 variant in infantile‐onset diabetes associated with multiorgan autoimmunity von Zhou, Qiaoli, Chen, Dandan, Yu, Jing, Zheng, Bixia, Zhou, Wei, Jia, Zhanjun, Zhang, Aihua, Gu, Wei

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Early diagnosis of WT1 nephropathy and follow up in a Chinese multicenter cohort von Sun, Shuzhen, Xu, Linan, Bi, Yunli, Wang, Jing, Zhang, Zhiqing, Tang, Xiaoshan, Cao, Qi, Zhai, Yihui, Chen, Jing, Fang, Xiaoyan, Liu, Jialu, Fang, Ye, Xiang, Tianchao, Qian, Yanyan, Wu, Bingbing, Wang, Huijun, Zhou, Wenhao, Shen, Jian, Dong, Kuiran, Liu, Xiaorong, Zheng, Bixia, Zhang, Aihua, Wang, Xiaowen, Wu, Yubing, Ma, Duan, Shen, Qian, Rao, Jia, Xu, Hong

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