Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ‐glutamyltransferase cholestasis von Qiu, Yi‐Ling, Gong, Jing‐Yu, Feng, Jia‐Yan, Wang, Ren‐Xue, Han, Jun, Liu, Teng, Lu, Yi, Li, Li‐Ting, Zhang, Mei‐Hong, Sheps, Jonathan A., Wang, Neng‐Li, Yan, Yan‐Yan, Li, Jia‐Qi, Chen, Lian, Borchers, Christoph H., Sipos, Bence, Knisely, A.S., Ling, Victor, Xing, Qing‐He, Wang, Jian‐She

Volltext

Association of novel TMEM67 variants with mild phenotypes of high gamma‐glutamyl transpeptidase cholestasis and congenital hepatic fibrosis von Qiu, Yi‐Ling, Wang, Li, Huang, Min, Lian, Min, Wang, Fengbin, Gong, Ying, Ma, Xiong, Hao, Chen‐Zhi, Zhang, Jing, Li, Zhong‐Die, Xing, Qing‐He, Cao, Muqing, Wang, Jian‐She

Volltext

TJP2 hepatobiliary disorders: Novel variants and clinical diversity von Zhang, Jing, Liu, Lang‐Li, Gong, Jing‐Yu, Hao, Chen‐Zhi, Qiu, Yi‐Ling, Lu, Yi, Feng, Jia‐Yan, Li, Jia‐Qi, Li, Zhong‐Die, Wang, Meng‐Xuan, Xing, Qing‐He, Knisely, A. S., Wang, Jian‐She

Volltext

MYO5B‐associated diseases: Novel liver‐related variants and genotype‐phenotype correlation von Wang, Li, Qiu, Yi‐Ling, Xu, Hong‐Mei, Zhu, Jing, Li, Shuang‐Jie, OuYang, Wen‐Xian, Yang, Yong‐Feng, Lu, Yi, Xie, Xin‐Bao, Xing, Qing‐He, Wang, Jian‐She

Volltext

Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase Cholestasis von Wang, Li, Qiu, Yi-Ling, Abuduxikuer, Kuerbanjiang, Wang, Neng-Li, Li, Zhong-Die, Cheng, Ye, Lu, Yi, Xie, Xin-Bao, Xing, Qing-He, Wang, Jian-She

Volltext

A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome von Wang, Yan-Gong, Sun, Shu-Ping, Qiu, Yi-Ling, Xing, Qing-He, Lu, Wei

Volltext

HLA‐A02:07 Allele Associates with Clarithromycin‐Induced Cutaneous Adverse Drug Reactions in Chinese Patients von Chen, Sheng‐An, Zhang, Li‐Rong, Yang, Fan‐Ping, Yang, Lin‐Lin, Yang, Ying, Chen, Zi‐Hua, Jiang, Meng‐Lin, Xiong, Hao, Zhu, Hui‐Zhong, Qi, Zheng, Xing, Qing‐He, Luo, Xiao‐Qun

Volltext

Clinical features and mismatch repair genes analyses of Chinese suspected hereditary non‐polypsis colorectal cancer: A cost‐effective screening strategy proposal von Yan, Hong‐Li, Hao, Li‐Qiang, Jin, Hei‐Ying, Xing, Qing‐He, Xue, Geng, Mei, Qian, He, Jin, He, Lin, Sun, Shu‐Han

Volltext

Association between HLA-B∗46:01 and cutaneous adverse drug reactions in Han Chinese von Jiang, Meng-Lin, Wang, Lan-Ting, Chen, Sheng-An, Yang, Fan-Ping, Xiong, Hao, Su, Yu, Zhu, Hui-Zhong, Qi, Zheng, Qin, Sheng-Ying, Luo, Xiao-Qun, Xing, Qing-He

Volltext

Transcript selection for the genetic diagnosis of KIF12-associated progressive familial intrahepatic cholestasis von Cheng, Ye, Zhang, Yi-Qiong, Wei, Bing-Xuan, Chen, Lian, Xing, Qing-He, Wang, Jian-She

Volltext

A Gene Locus Responsible for Reticulate Pigmented Anomaly of the Flexures Maps to Chromosome 17p13.3 von Li, Cheng-Rang, Xing, Qing-He, Li, Ming, Qin, Wei, Yue, Xue-Zhuang, Zhang, Xiao-Ju, Ma, Hui-Jun, Wang, Da-Guang, Feng, Guo-Yin, Zhu, Wen-Yuan, He, Lin

Volltext

Identification and Surgical Repair of Familial Thoracic Aortic Aneurysm and Dissection Caused by TGFBR1 Mutation von Dong, Song-Bo, Zheng, Jun, Ma, Wei-Guo, Chen, Ming-Jie, Cheng, Li-Jian, He, Lin, Xing, Qing-He, Sun, Li-Zhong

Volltext

Serum prolactin levels, plasma risperidone levels, polymorphism of cytochrome P450 2D6 and clinical response in patients with schizophrenia von Wang, Lei, Yu, Lan, Zhang, Ai-Ping, Fang, Chao, Du, Jing, Gu, Niu-Fan, Qin, Sheng-Ying, Feng, Guo-Yin, Li, Xing-Wang, Xing, Qing-He, He, Lin

Volltext

Association between a polymorphism of the HTR3A gene and therapeutic response to risperidone treatment in drug-naive Chinese schizophrenia patients von Gu, Bo, Wang, Lei, Zhang, Ai-Ping, Ma, Gang, Zhao, Xin-Zhi, Li, Hua-Fang, Feng, Guo-Ying, He, Lin, Xing, Qing-He

Volltext

Response of risperidone treatment may be associated with polymorphisms of HTT gene in Chinese schizophrenia patients von Wang, Lei, Yu, Lan, He, Guang, Zhang, Jing, Zhang, Ai-Ping, Du, Jing, Tang, Rui-Qi, Zhao, Xin-Zhi, Ma, Jie, Xuan, Jie-Kun, Xiao, Yue, Gu, Niu-Fan, Feng, Guo-Ying, Xu, Ming-Qing, Xing, Qing-He, He, Lin

Volltext

A Gene Locus Responsible for Dyschromatosis Symmetrica Hereditaria (DSH) Maps to Chromosome 6q24.2-q25.2 von Xing, Qing-he, Chen, Xiang-dong, Feng, Guo-yin, Ji, Hong-yun, Yang, Jian-dong, Gao, Jian-jun, Qin, Wei, Qian, Xue-qing, Wu, Sheng-nan, Wang, Ming-tai, He, Lin

Volltext

Association of DRD2 polymorphisms and chlorpromazine-induced extrapyramidal syndrome in Chinese schizophrenic patients von Wu, Sheng-Nan, Gao, Rui, Xing, Qing-He, Li, Hua-Fang, Shen, Yi-Feng, Gu, Niu-Fan, Feng, Guo-Yin, He, Lin

Volltext

Association analysis of polymorphisms in the upstream region of the human dopamine D4 receptor gene in schizophrenia von Xing, Qing-he, Wu, Sheng-nan, Lin, Zhi-guang, Li, Hua-fang, Yang, Jian-dong, Feng, Guo-yin, Wang, Ming-tai, Yang, Wei-wei, He, Lin

Volltext

Recurrent AKR1D1 c.580-13T>A Variant von Zhao, Jing, Qiu, Yi-Ling, Wang, Li, Li, Zhong-Die, Xie, Xin-Bao, Lu, Yi, Setchell, Kenneth D.R., Cheng, Ye, Xing, Qing-He, Wang, Jian-She

Volltext

Association of DRD2 polymorphisms and chlorpromazine‐induced extrapyramidal syndrome in Chinese schizophrenic patients1 von WU, Sheng‐nan, GAO, Rui, XING, Qing‐he, LI, Hua‐fang, SHEN, Yi‐feng, GU, Niu‐fan, FENG, Guo‐yin, HE, Lin

Volltext