Showing results 3 to 17 of 17
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Title | Author(s) | Issue Date | |
---|---|---|---|
2020 | |||
Exome sequencing in paediatric patients with movement disorders [accepted - OJRD-D-20-00713R2] Journal:Orphanet Journal of Rare Diseases | 2021 | ||
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 | ||
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 | ||
Dravet Syndrome-Genetic analysis of SCN1A and PCDH19 mutations for 17 Chinese children Proceeding/Conference:International Meeting for Autism Research | 2012 | ||
2020 | |||
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 | ||
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 | ||
Clinical and genetic evaluation of 23 children with infantile onset epileptic encephalopathy Proceeding/Conference:Hong Kong Medical Journal | 2013 | ||
CDKL5 variant in a boy with Infantile Epileptic Encephalopathy: Case report Journal:Brain & Development | 2015 | ||
Catalysis-based inhibitors of the calcium signaling function of CD38 Journal:Biochemistry | 2012 | ||
ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood - Potential target of treatment? Journal:Brain & development | 2015 | ||
2019 | |||
2015 | |||
A fatal case of COQ7-associated primary coenzyme Q10 deficiency Journal:JIMD Reports | 2019 |