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Showing results 1 to 16 of 16

	Title	Author(s)	Issue Date	Views
	Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory Journal:Healthcare	Lai, HTT Lau, ETK Lau, YTE Lo, HM Chan, YK Cheung, KW Ma, TWL Leung, WC Kong, CW Shu, W So, PL Kwong, KY Mak, CCY Lee, M Chui, MCM Chung, BHY Kan, SYA	2022
	Collagen VI related myopathy: Clinical variability of triple helical domain mutations of COL6A mutations Proceeding/Conference:International Child Neurology Congress. Mumbai, India. 2018	Chan, HSS Kwong, KY Luk, HM Lo, IFM Fung, STH Tsang, HYM Chung, BHY Chan, AOK	2019	32
	COLLAGEN VI-RELATED MYOPATHIES: CLINICAL VARIABILITY, PHENOTYPE-GENOTYPE CORRELATION AND EXPLORATORY TRANSCRIPTOME STUDY Journal:Neuromuscular Disorders	Kwong, KY ZHANG, Y Ho, SLR Gao, Y XU, L TSANG, HY Luk, HM Chung, BHY Bonnemann, CG Javed, A Chan, HSS	2023
	Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept Journal:npj Genomic Medicine	Lee, M Kwong, KY Chui, MCM CHAU, FTJ Mak, CCY Au, LKS Lo, HM Chan, YK Yepez, VA Gagneur, J Kan, SYA Chung, BHY	2022
	Epstein-Barr virus associated aplastic anaemia and hepatitis Journal:Journal of Paediatrics and Child Health	Lau, YL Srivastava, G Lee, CW Kwong, KY Yeung, CY	1994	182
	Epstein-Barr virus in carcinoma of the vulva Journal:Journal of Clinical Pathology	Cheung, ANY Khoo, US Kwong, KY Srivastava, G Collins, RJ	1993	106
	Evolution of precison medicine for Facioscapulohumeral muscular dystrophy in Hong Kong Chinese population: from unknown to known. Proceeding/Conference:19th Asian-Oceanian Myology Center Meeting (AOMC2021)	Gao, Y Kwong, KY Chan, GCF Chan, HSS	2021	7
	Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis Journal:Frontiers in Genetics	CHAU, FTJ LEE, M Chui, MCM YU, HC Fung, LF Mak, CCY Chau, SKC Siu, KK Hung, J Yeung, KS Kwong, KY O'Callaghan, C Lau, YL Lee, DCW Chung, BHY Lee, SL	2022	4
	Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy Journal:Epilepsia Open	Fung, CW Kwong, KY Wong, CNV	2017	71
	Genetic diagnosis of facioscapulohumeral muscular dystrophy in Hong Kong Chinese patients using molecular combing [PI, Supervisor]. Proceeding/Conference:The 20th Asian and Oceanian Myopathy Center (AOMC) Meeting in conjunction with the National Scientific Meeting of Indonesian Neurological Association (PERDOSSI) Jun 9th-12th 2022	Kwong, KY Gao, Y Pang, S Law, PTW Yu, KLM Cheng, Y Chan, GCF Chan, HSS	2022
	Grass carp Pit-1/GHF-1: Molecular cloning, functional characterization, and regulation of transcript expression in grass carp pituitary cells by somatostatin Proceeding/Conference:The Annual Meeting of the Endocrine Society	Kwong, KY Wong, AOL	2003	111
	High diagnostic yield by whole exome sequencing in a cohort of patients with movement disorders and/or progressive spasticity – possible targeted treatment implications and a way to precison medicine 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	Kwong, KY Tsang, MHY Fung, JLF Rodenburg, RJT Smeitink, J Chung, BHY Fung, CW	2019	33
	High FGF-21 level in patients with Dravet Syndrome – Possible relationship with the disease outcomes Journal:Epilepsia Open	Kwong, KY Wong, CNV Wong, SSN Chu, LYV Koene, S Smeitink, J Fung, CW	2021
	Human d-lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency Journal:JIMD Report	Kwong, KY Wong, SSN Rodenburg, RJT Smeitink, J Chan, GCF Fung, CW	2021	2
	Mutation of the LDHD gene in a Chinese girl with global developmental delay, transient hepatomegaly, hyperlactataemia and mitochondrial complex IV deficiency Proceeding/Conference:The 16th Conference of Asian Society for Mitochondrial Research and Medicine (ASMRM) & The 19th Conference of Japanese Society of Mitochondrial Research and Medicine (J-mit), 2019	Kwong, KY RODENBURG, RJT SMEITINK, J Fung, CW	2019	23
	SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet Journal:Brain and Development	Wong, VCN Fung, CW Kwong, KY	2015	63

Showing results 1 to 16 of 16