日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey

线粒体疾病患者死亡相关因素的特征分析:一项多中心横断面调查

Ivaniuk, Alina; Anselm, Irina A; Bowen, Aaron; Cohen, Bruce H; Eminoglu, Fatma Tuba; Estrella, Jane; Gallagher, Renata C; Ganetzky, Rebecca D; Gannon, Jennifer; Gorman, Grainne S; Greene, Carol; Gropman, Andrea L; Haas, Richard H; Hirano, Michio; Kapoor, Seema; Karaa, Amel; Koenig, Mary Kay; Kornblum, Cornelia; Kose, Engin; Larson, Austin; Lichter-Konecki, Uta; Lopriore, Piervito; Mancuso, Michelangelo; McFarland, Robert; Moe, Aye Myat; Morava, Eva; Ng, Yi Shiau; Saneto, Russell P; Scaglia, Fernando; Sue, Carolyn M; Tarnopolsky, Mark; Walker, Melissa A; Parikh, Sumit; Cheuk-Wing, Fung; Wong, Tsz-Sum; Belaramani, Kiran; Chan, Chun-Kong; Chan, Wing-Ki; Chan, Wai-Lun Larry; Cheung, Hon-Wing; Cheung, Ka-Yin; Chang, Shek-Kwan; Cheung, Sing-Ngai; Cheung, Tsz-Fung; Cheung, Yuk-Fai; Chong, Shuk-Ching Josephine; Chow, Chi-Kwan Jasmine; Chung, Hon-Yin B; Fan, Sin-Ying Florence; Fok, Wai-Ming Joshua; Fong, Ka-Wing; Fung, Tsui-Hang Sharon; Hui, Kwok-Fai; Hui, Ting-Hin; Hui, Joannie; Ko, Chun Hung; Kwan, Min-Chung; Kwok, Mei-Kwan Anne; Kwok, Sung-Shing Jeffrey; Lai, Moon-Sing; Lam, Yau-On; Lam, Ching-Wan; Lau, Ming-Chung; Law, Chun-Yiu Eric; Law, Hiu-Fung; Lee, Wing-Cheong; Hencher Lee, Han-Chih; Leung, Kin-Hang; Leung, Kit-Yan; Li, Siu-Hung; Ling, Tsz-Ki Jacky; Liu, Kam-Tim Timothy; Lo, Fai-Man; Lui, Colin; Luk, Ching-On; Luk, Ho-Ming; Ma, Che-Kwan; Ma, Karen; Ma, Kam-Hung; Mew, Yuen-Ni; Mo, Alex; Hg, Sui-Fun; Poon, Wing-Kit Grace; Sheng, Bun; Szeto, Cheuk-Ling Charing; Tai, Shuk-Mui; Tang, Jing-Liang; Tse, Choi-Ting Alan; Tsung, Li-Yan Lilian; Wong, Ho-Ming June; Wong, Wing-Yin Winnie; Wong, Kwok-Kui; Wong, Suet-Na Sheila; Wong, Chun-Nei Virginia; Wong, Wai-Shan Sammy; Wong, Chi-Kin Felix; Wu, Shun-Ping; Wu, Hiu-Fung Jerome; Yau, Man-Mut; Yau, Kin-Cheong Eric; Yeung, Wai-Lan; Yeung, Hon-Ming Jonas; Yip, Kin-Keung Edwin; Wu, Hui-Jun; Young, Pui-Hong Terence; Yuan, Gao; Yuen, Yuet-Ping Liz; Yuen, Chi-Lap

CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers

CYP2U1:一种新兴的可治疗神经代谢疾病,两名中国兄弟患有脑叶酸缺乏症

Wong, Sheila Suet-Na; Yuen, Liz Yuet-Ping; Kan, Elaine; Blau, Nenad; Rodenburg, Richard; Lam, Ching-Wan; Wong, Virginia Chun-Nei; Mochel, Fanny; Wevers, Ron A; Fung, Cheuk-Wing

Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes

常见和罕见变异对亚洲新生血管性年龄相关性黄斑变性亚型的贡献

Fan, Qiao; Li, Hengtong; Wang, Xiaomeng; Tham, Yih-Chung; Teo, Kelvin Yi Chong; Yasuda, Masayuki; Lim, Weng Khong; Kwan, Yuet Ping; Teo, Jing Xian; Chen, Ching-Jou; Chen, Li Jia; Ahn, Jeeyun; Davila, Sonia; Miyake, Masahiro; Tan, Patrick; Park, Kyu Hyung; Pang, Chi Pui; Khor, Chiea Chuan; Wong, Tien Yin; Yanagi, Yasuo; Cheung, Chui Ming Gemmy; Cheng, Ching-Yu

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape

香港线粒体疾病:患病率、临床特征和遗传格局

Wong, Tsz-Sum; Belaramani, Kiran M; Chan, Chun-Kong; Chan, Wing-Ki; Chan, Wai-Lun Larry; Chang, Shek-Kwan; Cheung, Sing-Ngai; Cheung, Ka-Yin; Cheung, Yuk-Fai; Chong, Shuk-Ching Josephine; Chow, Chi-Kwan Jasmine; Chung, Hon-Yin Brian; Fan, Sin-Ying Florence; Fok, Wai-Ming Joshua; Fong, Ka-Wing; Fung, Tsui-Hang Sharon; Hui, Kwok-Fai; Hui, Ting-Hin; Hui, Joannie; Ko, Chun-Hung; Kwan, Min-Chung; Kwok, Mei-Kwan Anne; Kwok, Sung-Shing Jeffrey; Lai, Moon-Sing; Lam, Yau-On; Lam, Ching-Wan; Lau, Ming-Chung; Law, Chun-Yiu Eric; Lee, Wing-Cheong; Lee, Han-Chih Hencher; Lee, Chin-Nam; Leung, Kin-Hang; Leung, Kit-Yan; Li, Siu-Hung; Ling, Tsz-Ki Jacky; Liu, Kam-Tim Timothy; Lo, Fai-Man; Lui, Hiu-Tung; Luk, Ching-On; Luk, Ho-Ming; Ma, Che-Kwan; Ma, Karen; Ma, Kam-Hung; Mew, Yuen-Ni; Mo, Alex; Ng, Sui-Fun; Poon, Wing-Kit Grace; Rodenburg, Richard; Sheng, Bun; Smeitink, Jan; Szeto, Cheuk-Ling Charing; Tai, Shuk-Mui; Tse, Choi-Ting Alan; Tsung, Li-Yan Lilian; Wong, Ho-Ming June; Wong, Wing-Yin Winnie; Wong, Kwok-Kui; Wong, Suet-Na Sheila; Wong, Chun-Nei Virginia; Wong, Wai-Shan Sammy; Wong, Chi-Kin Felix; Wu, Shun-Ping; Wu, Hiu-Fung Jerome; Yau, Man-Mut; Yau, Kin-Cheong Eric; Yeung, Wai-Lan; Yeung, Hon-Ming Jonas; Yip, Kin-Keung Edwin; Young, Pui-Hong Terence; Yuan, Gao; Yuen, Yuet-Ping Liz; Yuen, Chi-Lap; Fung, Cheuk-Wing

Hypoxia deactivates epigenetic feedbacks via enzyme-derived clicking proteolysis-targeting chimeras

缺氧通过酶衍生的点击蛋白水解靶向嵌合体使表观遗传反馈失活

Thang Cong Do, Jun Wei Lau, Caixia Sun, Songhan Liu, Khoa Tuan Kha, Seok Ting Lim, Yu Yang Oon, Yuet Ping Kwan, Jia Jia Ma, Yuguang Mu, Xiaogang Liu, Thomas James Carney, Xiaomeng Wang, Bengang Xing

Pharmacogenomic Profiling of Pediatric Acute Myeloid Leukemia to Identify Therapeutic Vulnerabilities and Inform Functional Precision Medicine

对儿童急性髓系白血病进行药物基因组学分析,以识别治疗弱点并指导功能性精准医学。

Wang, Han; Chan, Kathy Yuen Yee; Cheng, Chi Keung; Ng, Margaret H L; Lee, Po Yi; Cheng, Frankie Wai Tsoi; Lam, Grace Kee See; Chow, Tin Wai; Ha, Shau Yin; Chiang, Alan K S; Leung, Wing Hang; Leung, Anskar Y H; Wang, Chi Chiu; Zhang, Tao; Zhang, Xiao-Bing; So, Chi Chiu; Yuen, Yuet Ping; Sun, Qiwei; Zhang, Chi; Xu, Yaqun; Cheung, John Tak Kit; Ng, Wing Hei; Tang, Patrick Ming-Kuen; Kang, Wei; To, Ka-Fai; Lee, Wayne Yuk Wai; Wong, Raymond S M; Poon, Ellen Ngar Yun; Zhao, Qi; Huang, Junbin; Chen, Chun; Yuen, Patrick Man Pan; Li, Chi-Kong; Leung, Alex Wing Kwan; Leung, Kam Tong

Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome

病例报告:中国诺布洛赫综合征家族中COL18A1基因的新型双等位基因变异

Chong, Shuk Ching; Yuen, Yuet-Ping; Cao, Ye; Fan, Sze-Shing; Leung, Tak Yeung; Chan, Emily K Y; Zhu, Xian Lun

LRG1 Promotes Metastatic Dissemination of Melanoma through Regulating EGFR/STAT3 Signalling

LRG1通过调节EGFR / STAT3信号传导促进黑色素瘤的转移性播散

Yuet Ping Kwan, Melissa Hui Yen Teo, Jonathan Chee Woei Lim, Michelle Siying Tan, Graciella Rosellinny, Walter Wahli, Xiaomeng Wang

Investigating the Role of PPARβ/δ in Retinal Vascular Remodeling Using Pparβ/ δ-Deficient Mice

使用 Pparβ/δ 缺陷小鼠研究 PPARβ/δ 在视网膜血管重塑中的作用

Sze Yuan Ho, Yuet Ping Kwan, Beiying Qiu, Alison Tan, Hannah Louise Murray, Veluchamy Amutha Barathi, Nguan Soon Tan, Chui Ming Gemmy Cheung, Tien Yin Wong, Walter Wahli, Xiaomeng Wang

A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by AP2S1 mutation

香港华人家族患有由AP2S1基因突变引起的家族性低钙尿性高钙血症。

Wong, Felix Chi Kin; Wong, Wai Sheung; Kwok, Jeffrey Sung Shing; Tsui, Teresa Kam Chi; Lau, Kam Piu; Chan, Michael Ho Ming; Yuen, Yuet Ping