Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

by Anna Ka-Yee Kwong, Cheuk-Wing Fung, Siu-Yuen Chan, Virginia Chun-Nei Wong
Published 2012-01-01

Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.

by Anna Ka-Yee Kwong, Alvin Chi-Chung Ho, Cheuk-Wing Fung, Virginia Chun-Nei Wong
Published 2015-01-01

Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency

by Anna Ka‐Yee Kwong, Sheila Suet‐Na Wong, Richard J. T. Rodenburg, Jan Smeitink, Godfrey Chi Fung Chan, Cheuk‐Wing Fung
Published 2021-07-01

Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation

by Sheng Zhu, Anna Hing Yee Law, Ruixia Deng, Ellen Ngar Yun Poon, Chun Wai Lo, Anna Ka Yee Kwong, Rui Liang, Kelvin Yuen Kwong Chan, Wai Lap Wong, Kian Cheng Tan-Un, W.W.M. Pim Pijnappel, Godfrey Chi Fung Chan, Sophelia Hoi Shan Chan
Published 2020-12-01

Exome sequencing in paediatric patients with movement disorders

by Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J. T. Rodenburg, Monkol Lek, Shushu Huang, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Sharon Fung, Kam-Tim Liu, Che-Kwan Ma, Sheila Wong, Eric Kin-Cheong Yau, Shuk-Mui Tai, Eva Lai-Wah Fung, Nick Shun-Ping Wu, Li-Yan Tsung, Jan Smeitink, Brian Hon-Yin Chung, Cheuk-Wing Fung
Published 2021-01-01