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Gain-of-function variants in IRF6 cause hidradenitis suppurativa, ectodermal dysplasia and deafness syndrome IRF6基因的功能获得性变异导致毛囊炎、外胚层发育不良及耳聋综合征。 Zhang, Zeqiao; Zhang, Gaolei; Lv, Yaxuan; Zhao, Sisi; Lv, Kunlun; Peng, Sha; Yan, Zhiqi; Wang, Huijun; Lin, Zhimiao 分享 收藏
Gain-of-function variant in NNT causes premature diffuse familial sebaceous hyperplasia NNT基因的功能获得性变异导致弥漫性家族性皮脂腺增生早发。 Liang, Lina; Wang, Sheng; Huang, Shimiao; Sun, Yonghu; Peng, Sha; Zouboulis, Christos C.; Hossini, Amir M.; Chen, Quan; Wang, Huijun; Lin, Zhimiao 分享 收藏
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Thalidomide-based regimen shows promising efficacy in large granular lymphocytic leukemia: a multicenter phase II study 沙利度胺为基础的方案在大型颗粒淋巴细胞白血病中显示出有希望的疗效:一项多中心II期研究 Yu, Ying; Li, Yuxi; Cui, Rui; Yan, Yuting; Li, Fei; Chen, Yan; Wang, Tingyu; Hu, Xiaoli; Feng, Yaqing; Yu, Tengteng; Huang, Yanshan; Sun, Jingwen; Lyu, Rui; Xiong, Wenjie; Wang, Qi; Liu, Wei; An, Gang; Sui, Weiwei; Xu, Yan; Huang, Wenyang; Zou, Dehui; Wang, Huijun; Xiao, Zhijian; Qiu, Lugui; Yi, Shuhua 分享 收藏
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ΓS and Aβ T-Cell Large Granular Lymphocytic Leukemia Have Similar Characteristics and Outcomes ΓS和Aβ T细胞大颗粒淋巴细胞白血病具有相似的特征和结局。 Yuxi, Li; Cui, Rui; Yu, Ying; Huang, Yanshan; Sun, Jingwen; Yan, Yuting; Wang, Tingyu; Wenjie, Xiong; Lyu, Rui; Wang, Qi; Liu, Wei; An, Gang; Sui, Weiwei; Xu, Yan; Huang, Wenyang; Zou, Dehui; Zhang, Fengkui; Wang, Huijun; Xiao, Zhi-jian; Qiu, Lu-Gui; Yi, Shuhua 分享 收藏
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A gain-of-function variant in SREBF1 causes generalized skin hyperpigmentation with congenital cataracts Wang, Huijun; Wu, Yuan; Bassetti, Jennifer A.; Wang, Zhaoyang; Oza, Vikash S.; Rangu, Sneha A.; Mcgivern, Bobbi; Peng, Sha; Liang, Lina; Huang, Shimiao; Gong, Zhuoqing; Xu, Zigang; Lin, Zhimiao 分享 收藏
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