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

The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project

基因组测序在罕见遗传病诊断中的应用:香港基因组计划的一项试点研究

Lam, Wai Kei Jacky; Lau, Chak Sing; Luk, Ho Ming; Au, Lisa Wing Chi; Chan, Gary C P; Chan, Will Yap Hang; Cheng, Shirley Sze Wing; Cheng, Timothy Hua Tse; Cheung, Li Li; Cheung, Yiu Fai; Chong, Josephine Shuk Ching; Chu, Annie Tsz Wai; Chung, Claudia Ching Yan; Chung, Kin Lai; Fung, Cheuk Wing; Fung, Eva Lai Wah; Gao, Yuan; Ho, Stephanie; Hue, Shirley Pik Ying; Lee, Chi-Ho; Lee, Tsz Leung; Li, Philip Hei; Lo, Hei Man; Man Lo, Ivan Fai; Loong, Herbert Ho Fung; Ma, Becky Mingyao; Ma, Wei; Pang, Shirley Yin Yu; Seto, Wai-Kay; Siu, Steven Wai Kwan; So, Ho; Tam, Yuk Him; Tang, Wenshu; Wong, Rosanna Ming Sum; Yap, Desmond Yat Hin; Yau, Maggie Lo Yee; Chung, Brian Hon Yin; Lo, Su-Vui

An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis.

一种另辟蹊径的方法:通过将蛋白质组学整合到多组学指导的外显子组重新分析中,推进神经系统疾病的诊断

Chui Martin Man-Chun, Kwong Anna Ka-Yee, Leung Hiu Yu Cherie, Pang Chingyiu, Scheller Ines F, Wong Sheila Suet-Na, Fung Cheuk-Wing, Yépez Vicente A, Gagneur Julien, Mak Christopher Chun-Yu, Chung Brian Hon-Yin

Open-label pilot study using hydroxytyrosol as dietary supplements in patients with mitochondrial diseases

一项开放标签的试点研究,使用羟基酪醇作为膳食补充剂治疗线粒体疾病患者

Wong, Tsz Sum; Man, Emily; Wong, Ian Chi Kei; Li, Shirley Xue; Zhi, Hui; Yeung, Ka Man Carmen; Yip, Ka Yee; Kwong, Anna Ka Yee; Belaramani, Kiran Moti; Wong, Suet Na; Kwok, Anne Mei Kwun; Mak, Miu; Chan, Toby Chun Hei; Lau, Pui Yee; Kan, Yee Ling Elaine; Wong, Kwok Chun; Poon, Freddie; Kwok, Vansie; Li, Chun Yin Dick; Lau, Paul; Lam, Sze Man; Chu, Vanessa; Chan, Chi Fung Godfrey; Fung, Cheuk Wing

Case report: Hepatocellular carcinoma in a patient with Pyridoxamine 5-phosphate oxidase (PNPO) deficiency undergoing pyridoxal 5-phosphate (PLP) treatment

病例报告:接受吡哆醛5-磷酸(PLP)治疗的吡哆胺5-磷酸氧化酶(PNPO)缺乏症患者发生肝细胞癌

Lee, Jesse Zhen Cheng; Chow, Chit Kwong; Fung, Cheuk-Wing; Lui, Stephen Tak Yau; Wong, Suet-Na Sheila

DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified

DNAJC12 缺乏症:一种通过新生儿筛查发现的新兴疾病——病例分析及新发现的变异

Wong, Tsz Sum; Wong, Sheila Suet Na; Kwok, Anne Mei Kwun; Wu, Helen; Law, Hiu Fung; Lam, Shirley; Yeung, Matthew Chun Wing; Chan, Toby Chun Hei; Leung, Gordon; Mak, Chloe Miu; Belaramani, Kiran Moti; Fung, Cheuk Wing

"Using dried blood spots beyond newborn screening - is Hong Kong ready?": navigating the intersection of innovation readiness, privacy concerns, and Chinese parenting culture

“将干血斑应用于新生儿筛查以外的领域——香港准备好了吗?”:探索创新准备度、隐私顾虑和中国育儿文化之间的交集

Ngan, Olivia Miu Yung; Fung, Cheuk Wing; Kwok, Mei Kwun; Yau, Eric Kin Cheong; Lee, Shing Yan Robert; Luk, Ho-Ming; Belaramani, Kiran Moti

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

Neuroimaging in Primary Coenzyme-Q(10)-Deficiency Disorders

原发性辅酶Q(10)缺乏症的神经影像学研究

Münch, Juliane; Prasuhn, Jannik; Laugwitz, Lucia; Fung, Cheuk-Wing; Chung, Brian H-Y; Bellusci, Marcello; Mayatepek, Ertan; Klee, Dirk; Distelmaier, Felix

Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong

香港公众和医疗服务提供者对保留干血斑卡及其用于扩展基因检测的接受度

Belaramani, Kiran Moti; Fung, Cheuk Wing; Kwok, Anne Mei Kwun; Lee, Shing Yan Robert; Yau, Eric Kin Cheong; Luk, Ho Ming; Mak, Chloe Miu; Yeung, Matthew Chun Wing; Ngan, Olivia Miu Yung

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