Showing results 9 to 17 of 17
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| Title | Author(s) | Issue Date | |
|---|---|---|---|
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 |