Showing results 5 to 20 of 20
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Title | Author(s) | Issue Date | |
---|---|---|---|
Catalysis-based inhibitors of the calcium signaling function of CD38 Journal:Biochemistry | 2012 | ||
CDKL5 variant in a boy with Infantile Epileptic Encephalopathy: Case report Journal:Brain & Development | 2015 | ||
Clinical and genetic evaluation of 23 children with infantile onset epileptic encephalopathy Proceeding/Conference:Hong Kong Medical Journal | 2013 | ||
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 | 2019 | ||
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 | 2019 | ||
2020 | |||
Design, synthesis and biological characterization of novel inhibitors of CD38 Journal:Organic and Biomolecular Chemistry | 2011 | ||
Design, Synthesis And Biological Evaluation Of Noncovalent Inhibitors Of Human Cd38 Nadase Journal:ChemMedChem: chemistry enabling drug discovery | 2012 | ||
Dravet Syndrome-Genetic analysis of SCN1A and PCDH19 mutations for 17 Chinese children Proceeding/Conference:International Meeting for Autism Research | 2012 | ||
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) | 2020 | ||
Evaluating HighâConfidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses Journal:Journal of the American Heart Association Cardiovascular and Cerebrovascular Disease | 21-Feb-2023 | ||
Exome sequencing in paediatric patients with movement disorders [accepted - OJRD-D-20-00713R2] Journal:Orphanet Journal of Rare Diseases | 2021 | ||
2020 | |||
Patient-derived induced pluripotent stem cells differentiated cardiomyocytes as platform for disease modeling for X-linked dilated cardiomyopathy Proceeding/Conference:Neuromuscular Disorders | 2020 | ||
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese Journal:npj Genomic Medicine | 2019 | ||
Synthesis and biological evaluation of nicotinamide adenine dinucleotides analogues as inhibitors of CD38 Journal:Gaodeng Xuexiao Huaxue Xuebao/Chemical Journal of Chinese Universities | 2012 |