Showing results 2 to 5 of 5
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Title | Author(s) | Issue Date | Views | |
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Evaluation of the 18-month 'Pilot Study of Newborn Screening for Inborn Errors of Metabolism' in Hong Kong Journal:Hong Kong Journal of Paediatrics (New series) | 2020 | 9 | ||
Exome sequencing in paediatric patients with movement disorders [accepted - OJRD-D-20-00713R2] Journal:Orphanet Journal of Rare Diseases | 2021 | 20 | ||
Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients Journal:Hong Kong Medical Journal | 2011 | 117 | ||
Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype Journal:Clinical Neurology and Neurosurgery | 2020 | 15 |