Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy

por Fung, Cheuk‐Wing, Kwong, Anna Ka‐Yee, Wong, Virginia Chun‐Nei
Publicado 2017

Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome

por Kwong, Anna Ka-Yee, Fung, Cheuk-Wing, Chan, Siu-Yuen, Wong, Virginia Chun-Nei
Publicado 2012

Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy

por Kwong, Anna Ka-Yee, Ho, Alvin Chi-Chung, Fung, Cheuk-Wing, Wong, Virginia Chun-Nei
Publicado 2015

High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes

por Kwong, Anna Ka‐Yee, Wong, Virginia Chun‐Nei, Wong, Sheila Suet‐Na, Chu, Vanessa Loi‐Yan, Koene, Saskia, Smeitink, Jan, Fung, Cheuk‐Wing
Publicado 2021

Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation

por Chiu, Annie Ting Gee, Chan, Sophelia Hoi Shan, Wu, Shun Ping, Ting, Shun Hin, Chung, Brian Hon Yin, Chan, Angel On Kei, Wong, Virginia Chun Nei
Publicado 2018

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

por 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
Publicado 2023

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder—implications of a copy number variation involving DPP10

por Mak, Annisa Shui Lam, Chiu, Annie Ting Gee, Leung, Gordon Ka Chun, Mak, Christopher Chun Yu, Chu, Yoyo Wing Yiu, Mok, Gary Tsz Kin, Tang, Wing Fai, Chan, Kelvin Yuen Kwong, Tang, Mary Hoi Yin, Lau Yim, Elizabeth Tak-Kwong, So, Kin Wai, Tao, Victoria Qinchen, Fung, Cheuk Wing, Wong, Virginia Chun Nei, Uddin, Mohammed, Lee, So Lun, Marshall, Christian R., Scherer, Stephen W., Kan, Anita Sik Yau, Chung, Brian Hon Yin
Publicado 2017