Showing results 26 to 45 of 97
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Title | Author(s) | Issue Date | Views | |
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A diagrammatic approach to search for minimum sampling frequency and quantization resolution for digital control of power converters Proceeding/Conference:PESC Record - IEEE Annual Power Electronics Specialists Conference | 2007 | 168 | ||
Dravet syndeome: genetic analysis of SCN1A and PCDH19 mutations for 17 Chinese children Proceeding/Conference:Hong Kong Medical Journal | 2012 | 23 | ||
Dravet syndrome - genetic analysis of SCN1A and PCDH19 mutations for 17 Chinese children Proceeding/Conference:Developmental Medicine and Child Neurology | 2012 | 164 | ||
Dravet Syndrome-Genetic analysis of SCN1A and PCDH19 mutations for 17 Chinese children Proceeding/Conference:International Meeting for Autism Research | 2012 | 144 | ||
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 | 34 | ||
2018 | 96 | |||
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy Journal:Epilepsia Open | 2019 | 111 | ||
Exome sequencing in paediatric patients with movement disorders [accepted - OJRD-D-20-00713R2] Journal:Orphanet Journal of Rare Diseases | 2021 | 44 | ||
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency Journal:Journal of Child Neurology | 2011 | 161 | ||
Folinic acid responsive epilepsy in Ohtahara Syndrome caused by STXBP1 mutation Journal:Pediatric Neurology | 2014 | 104 | ||
2017 | 53 | |||
2008 | 169 | |||
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 | 2019 | 33 | ||
2021 | ||||
2021 | 2 | |||
2012 | 52 | |||
Improving genetic diagnosis by whole exome sequencing in rare hereditary peripheral neuropathies Proceeding/Conference:Hong Kong College of Paediatricians 4th Annual Scientific Meeting cum 5th HK-Guangdong-Shanghai-Chongquing Paediatric Exchange Meeting | 2016 | 18 | ||
Infantile Convulsion Choreoathetosis Syndrome in a Hong Kong Chinese Family Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009 | 2009 | 168 | ||
Infantile convulsion choreoathetosis syndrome in a Hong Kong Chinese Family Proceeding/Conference:ACGA-HKSMG 2008 International Conference | 2008 | 124 | ||
Infantile convulsion choreoathetosis syndrome in a Hong Kong Chinese family Proceeding/Conference:Asian & Oceanian Epilepsy Congress, AOEC 2008 | 2008 | 128 |