Browsing "Department of Paediatrics & Adolescent Medicine" by Author kwong, ky

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Showing results 1 to 14 of 14
TitleAuthor(s)Issue DateViews
 
SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet
Journal:Brain and Development
Wong, VCNFung, CWKwong, KY
2015
53
 
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, KYRODENBURG, RJTSMEITINK, JFung, CW
2019
23
 
Human d-lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency
Journal:JIMD Report
Kwong, KYWong, SSNRodenburg, RJTSmeitink, JChan, GCFFung, CW
2021
2
 
High FGF-21 level in patients with Dravet Syndrome – Possible relationship with the disease outcomes
Journal:Epilepsia Open
Kwong, KYWong, CNVWong, SSNChu, LYVKoene, SSmeitink, JFung, CW
2021
 
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, KYTsang, MHYFung, JLFRodenburg, RJTSmeitink, JChung, BHYFung, CW
2019
33
 
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, KYGao, YPang, SLaw, PTWYu, KLMCheng, YChan, GCFChan, HSS
2022
 
Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy
Journal:Epilepsia Open
Fung, CWKwong, KYWong, CNV
2017
53
 
Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis
Journal:Frontiers in Genetics
CHAU, FTJLEE, MChui, MCMYU, HCFung, LFMak, CCYChau, SKCSiu, KKHung, JYeung, KSKwong, KYO'Callaghan, CLau, YLLee, DCWChung, BHYLee, SL
2022
4
 
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, YKwong, KYChan, GCFChan, HSS
2021
7
 
Epstein-Barr virus associated aplastic anaemia and hepatitis
Journal:Journal of Paediatrics and Child Health
Lau, YLSrivastava, GLee, CWKwong, KYYeung, CY
1994
163
 
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept
Journal:npj Genomic Medicine
Lee, MKwong, KYChui, MCMCHAU, FTJMak, CCYAu, LKSLo, HMChan, YKYepez, VAGagneur, JKan, SYAChung, BHY
2022
 
COLLAGEN VI-RELATED MYOPATHIES: CLINICAL VARIABILITY, PHENOTYPE-GENOTYPE CORRELATION AND EXPLORATORY TRANSCRIPTOME STUDY
Journal:Neuromuscular Disorders
Kwong, KYZHANG, YHo, SLRGao, YXU, LTSANG, HYLuk, HMChung, BHYBonnemann, CGJaved, AChan, HSS
2023
 
Collagen VI related myopathy: Clinical variability of triple helical domain mutations of COL6A mutations
Proceeding/Conference:International Child Neurology Congress. Mumbai, India. 2018
Chan, HSSKwong, KYLuk, HMLo, IFMFung, STHTsang, HYMChung, BHYChan, AOK
2019
32
 
Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory
Journal:Healthcare
Lai, HTTLau, ETKLau, YTELo, HMChan, YKCheung, KWMa, TWLLeung, WCKong, CWShu, WSo, PLKwong, KYMak, CCYLee, MChui, MCMChung, BHYKan, SYA
2022
Showing results 1 to 14 of 14