Showing results 1 to 20 of 44
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| Issue Date | Title | Author(s) |
| Oct-2021 | Amyloidosis cutis dyschromica cases caused by GPNMB mutations with different inheritance patterns | Qin, Wen; Wang, Huijun; Zhong, Weilong; Bai, Juan; Qiao, Jianjun; Lin, Zhimiao |
| 2017 | Annular Plaques With Skin Atrophy in a Young Patient | Zhou, Eray Yihui; Zhao, Yi; Lin, Zhimiao |
| Mar-2023 | Biallelic mutations in LSS in autosomal-recessive mutilating palmoplantar keratoderma | Zhou, Shengru; Jiang, Xingyuan; Zhu, Yuhao; Yang, Jianqiu; Yuan, Chunyu; Chen, Min; Zhou, Qianqian; Lin, Zhimiao; Li, Min |
| Oct-2022 | Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma- Congenital Alopecia Syndrome Type 2 | Yang, Fang; Jiang, Xingyuan; Zhu, Yuhao; Lee, Mingyang; Xu, Zhengren; Zhang, Jianglin; Li, Qian; Lin, Mao-Ying; Wang, Huijun; Lin, Zhimiao |
| 2014 | CARD9 mutations linked to subcutaneous phaeohyphomycosis and T(H)17 cell deficiencies | Wang, Xiaowen; Wang, Wenyan; Lin, Zhimiao; Wang, Xiaolin; Li, Ting; Yu, Jin; Liu, Wei; Tong, Zhongsheng; Xu, Yonghao; Zhang, Junling; Guan, Liping; Dai, Lanlan; Yang, Yong; Han, Wenling; Li, Ruoyu |
| 2011 | A Case of Hailey-Hailey Disease in an Infant with a New ATP2C1 Gene Mutation | Xu, Zhe; Zhang, Lixin; Xiao, Yuanyuan; Li, Li; Lin, Zhimiao; Yang, Yong; Ma, Lin |
| 6-Jan-2021 | A child with multiple hypopigmented lesions | Wang, Ruojun; Lin, Zhimiao |
| 2017 | Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients | Zhou, Eray Yihui; Wang, Huijun; Lin, Zhimiao; Xu, Guiwen; Ma, Zhihong; Zhao, Jiahui; Feng, Cheng; Duo, Lina; Yin, Jinghua; Yang, Yong |
| 2015 | Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia | Yin, Jinghua; Ren, Yali; Lin, Zhimiao; Wang, Huijun; Zhou, Yun; Yang, Yong |
| 2023 | Detection of low-frequency mutations in clinical samples by increasing mutation abundance via the excision of wild-type sequences | Chen, Wei; Xu, Haiqi; Dai, Shenbin; Wang, Jiayu; Yang, Ziyu; Jin, Yuewen; Zou, Mengbing; Xiao, Xianjin; Wu, Tongbo; Yan, Wei; Zhang, Bin; Lin, Zhimiao; Zhao, Meiping |
| 2016 | DNA polymerase-alpha regulates the activation of type I interferons through cytosolic RNA:DNA synthesis | Starokadomskyy, Petro; Gemelli, Terry; Rios, Jonathan J.; Xing, Chao; Wang, Richard C.; Li, Haiying; Pokatayev, Vladislav; Dozmorov, Igor; Khan, Shaheen; Miyata, Naoteru; Fraile, Guadalupe; Raj, Prithvi; Xu, Zhe; Xu, Zigang; Ma, Lin; Lin, Zhimiao; Wang, Huijun; Yang, Yong; Ben-Amitai, Dan; Orenstein, Naama; Mussaffi, Huda; Baselga, Eulalia; Tadini, Gianluca; Grunebaum, Eyal; Sarajlija, Adrijan; Krzewski, Konrad; Wakeland, Edward K.; Yan, Nan; de la Morena, Maria Teresa; Zinn, Andrew R.; Burstein, Ezra |
| 2019 | Dry Scaly Patches and Nodules in a Middle-aged Man | Wang, Ruojun; Wang, Yang; Lin, Zhimiao |
| 2009 | Early- and late-onset inherited erythromelalgia: genotypephenotype correlation | Han, Chongyang; Dib-Hajj, Sulayman D.; Lin, Zhimiao; Li, Yan; Eastman, Emmanuella M.; Tyrrell, Lynda; Cao, Xianwei; Yang, Yong; Waxman, Stephen G. |
| 2009 | Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials | Lampert, Angelika; Dib-Hajj, Sulayman D.; Eastman, Emmanuella M.; Tyrrell, Lynda; Lin, Zhimiao; Yang, Yong; Waxman, Stephen G. |
| 2013 | Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosis | Wang, Xiaowen; Lin, Zhimiao; Gao, Lujuan; Wang, Aiping; Wan, Zhe; Chen, Wei; Yang, Yong; Li, Ruoyu |
| 2015 | Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome | Wang, Huijun; Cao, Xu; Lin, Zhimiao; Lee, Mingyang; Jia, Xinying; Ren, Yali; Dai, Lanlan; Guan, Liping; Zhang, Jianguo; Lin, Xuan; Zhang, Jie; Chen, Quan; Feng, Cheng; Zhou, Eray Yihui; Yin, Jinghua; Xu, Guiwen; Yang, Yong |
| 2012 | Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome | Lin, Zhimiao; Chen, Quan; Lee, Mingyang; Cao, Xu; Zhang, Jie; Ma, Donglai; Chen, Long; Hu, Xiaoping; Wang, Huijun; Wang, Xiaowen; Zhang, Peng; Liu, Xuanzhu; Guan, Liping; Tang, Yiquan; Yang, Haizhen; Tu, Ping; Bu, Dingfang; Zhu, Xuejun; Wang, KeWei; Li, Ruoyu; Yang, Yong |
| 2019 | Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia | Wang, Huijun; Xu, Zhe; Lee, Bo Hyun; Vu, Simon; Hu, Linghan; Lee, Mingyang; Bu, Dingfang; Gao, Xu; Hwang, Samuel; Yang, Yong; Zheng, Jie; Lin, Zhimiao |
| 2019 | Gain-Of-Function Mutationsin TRPM4 Activation Gate Cause Skin Disease PSEK | Wang, Huijun; Xu, Zhe; Lee, Bo Hyun; Vu, Simon; Hu, Linghan; Lee, Mingyang; Bu, Dingfang; Cao, Xu; Hwang, Samuel; Yang, Yong; Zheng, Jie; Lin, Zhimiao |
| Sep-2020 | Generalized bullae in a young girl withKRT6A-related pachyonychia congenita | Liu, Jie; Zhong, Weilong; Yu, Bo; Lin, Zhimiao; Zheng, Yalei; Hu, Xiaoping |
