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Showing results 3 to 17 of 17 < previous

	Title	Author(s)	Issue Date	Views
	Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation Journal:Stem Cell Research	Zhu, S Law, AHY Deng, R Poon, ENY Lo, CW Kwong, AKY Liang, R Chan, KYK Wong, WL Tan-Un, KC Pijnappel, WWMP Chan, GCF Chan, SHS	2020	23
	Exome sequencing in paediatric patients with movement disorders [accepted - OJRD-D-20-00713R2] Journal:Orphanet Journal of Rare Diseases	Kwong, AKY TSANG, MHY Fung, JLF Mak, CCY Chan, KLS Rodenburg, RJT Lek, M Huang, S Pajusalu, S Yau, MM Tsoi, C Fung, S Liu, KT Ma, CK Wong, S Yau, EKC Tai, SM Fung, ELW Wu, NSP Tsung, LY Smeitink, J Chung, BHY Fung, CW	2021	44
	Evaluating High‐Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses Journal:Journal of the American Heart Association Cardiovascular and Cerebrovascular Disease	Chui, MMC Mak, CCY Yu, MHC Wong, SYY Lun, KS Yung, TC Kwong, AKY Chow, PC Chung, BHY	21-Feb-2023
	Effect of olive oil phenol hydroxytyrosol (HT) in patient cell model with mitochondrial complex deficiency Proceeding/Conference:Joint Annual Scientific Meeting 2020 (Virtual Meeting) of The Hong Kong Paediatric Society (HKPS), Hong Kong College of Paediatricians (HKCPaed), Hong Kong Paediatric Nurses Association (HKPNA) and Hong Kong College of Paediatric Nursing (HKCPN)	Kwong, AKY Fung, CW	2020	34
	Dravet Syndrome-Genetic analysis of SCN1A and PCDH19 mutations for 17 Chinese children Proceeding/Conference:International Meeting for Autism Research	Wong, VCN Kwong, AKY Fung, CW	2012	144
	Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population Journal:Human Genomics	TSANG, MHY Kwong, AKY Chan, KLS Fung, JLF YU, MHC Mak, CCY Yeung, KS Rodenburg, RJT Smeitink, JAM Chan, R Tsoi, T Hui, J Wong, SSN Tai, SM Chan, VCM Ma, CK Fung, STH Wu, SP Chak, WK Chung, BHY Fung, CW	2020	25
	Comprehensive genetic evaluation in paediatric-onset mitochondrial diseases Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, & Hong Kong College of Paediatric Nursing	Tsang, MHY Kwong, AKY Fung, JLF Yu, MHC Yeung, KS Mak, CCY Rodenburg, R Smeitink, J Luk, HM Lo, FMI Chung, BHY Fung, CW	2019	50
	Collagen VI and XII related myopathies: clinical variability and novel variants found in Hong Kong patients Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, & Hong Kong College of Paediatric Nursing	Chan, HSS Kwong, AKY Tsang, HY Ho, RSL Luk, HM Lee, H Chung, BHY Bonnemann, CG	2019	58
	Clinical and genetic evaluation of 23 children with infantile onset epileptic encephalopathy Proceeding/Conference:Hong Kong Medical Journal	Ho, ACC Kwong, AKY Fung, CW Wong, VCN	2013	42
	CDKL5 variant in a boy with Infantile Epileptic Encephalopathy: Case report Journal:Brain & Development	Wong, VCN Kwong, AKY	2015	58
	Catalysis-based inhibitors of the calcium signaling function of CD38 Journal:Biochemistry	Kwong, AKY Chen, Z Zhang, H Leung, FP Lam, CMC Ting, KY Zhang, L Hao, Q Zhang, LH Lee, HC	2012	213
	ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood - Potential target of treatment? Journal:Brain & development	Wong, VCN Kwong, AKY	2015	196
	ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV Journal:Brain & Development	Kwong, AKY Chu, VLY RODENBURG, RJT SMEITINK, J Fung, CW	2019	50
	Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic Infantile Epileptic Encephalopathy Journal:PLoS ONE	Kwong, AKY Ho, CCA Fung, CW Wong, VCN	2015	51
	A fatal case of COQ7-associated primary coenzyme Q10 deficiency Journal:JIMD Reports	Kwong, AKY Chiu, ATG TSANG, MHY Lun, KS Rodenburg, RJT Smeitink, J Chung, BHY Fung, CW	2019	99

Showing results 3 to 17 of 17 < previous