Vaginal Bleeding in an Infant with Extreme Prematurity

por Poon, Wing Yiu Sarah, Tung, Joanna Yuet Ling
Publicado 2020

Comparison of Direct Sequencing, Real-Time PCR-High Resolution Melt (PCR-HRM) and PCR-Restriction Fragment Length Polymorphism (PCR-RFLP) Analysis for Genotyping of Common Thiopuri...

por Fong, Wai-Ying, Ho, Chi-Chun, Poon, Wing-Tat
Publicado 2017

Novel Tetra-Primer ARMS-PCR Assays for Thiopurine Intolerance Susceptibility Mutations NUDT15 c.415C>T and TPMT c.719A>G (TPMT*3C) in East Asians

por Ho, Chi-Chun, Fong, Wai-Ying, Lee, Yuen-Hon, Poon, Wing-Tat
Publicado 2017

GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report

por Ho, Chi-Chun, Tsung, Lilian Li-Yan, Liu, Kam-Tim, Poon, Wing-Tat
Publicado 2018

Genetic Spectrum and Cascade Screening of Familial Hypercholesterolemia in Routine Clinical Setting in Hong Kong

por Yip, Man-Kwan, Kwan, Elaine Yin-Wah, Leung, Jenny Yin-Yan, Lau, Emmy Yuen-Fun, Poon, Wing-Tat
Publicado 2023

Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing

por Ho, Chi-Chun, Tai, Shuk-Mui, Lee, Edmond Chi-Nam, Mak, Timothy Shin-Heng, Liu, Timothy Kam-Tim, Tang, Victor Wai-Lun, Poon, Wing-Tat
Publicado 2017

Developing and user testing new pharmacy label formats—A study to inform labelling standards

por Tong, Vivien, Aslani, Parisa, Raynor, David K., Shipp, Diana, Parkinson, Brian, Lalor, Daniel, Sobey, Andrew, Gilbert, Alice, Crofton, Jackie, Young, Joanne, Carter, Sophie, Poon, Wing, Chitlangia, Shrada
Publicado 2021

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

por 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
Publicado 2023