Showing results 1 to 5 of 5
Title | Author(s) | Issue Date | |
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Collagen VI related myopathy: Clinical variability of triple helical domain mutations of COL6A mutations Proceeding/Conference:International Child Neurology Congress. Mumbai, India. 2018 | 2019 | ||
Evolution of precison medicine for Facioscapulohumeral muscular dystrophy in Hong Kong Chinese population: from unknown to known. Proceeding/Conference:19th Asian-Oceanian Myology Center Meeting (AOMC2021) | 2021 | ||
Genetic diagnosis of facioscapulohumeral muscular dystrophy in Hong Kong Chinese patients using molecular combing [PI, Supervisor]. Proceeding/Conference:The 20th Asian and Oceanian Myopathy Center (AOMC) Meeting in conjunction with the National Scientific Meeting of Indonesian Neurological Association (PERDOSSI) Jun 9th-12th 2022 | 2022 | ||
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 | ||
Mutation of the LDHD gene in a Chinese girl with global developmental delay, transient hepatomegaly, hyperlactataemia and mitochondrial complex IV deficiency Proceeding/Conference:The 16th Conference of Asian Society for Mitochondrial Research and Medicine (ASMRM) & The 19th Conference of Japanese Society of Mitochondrial Research and Medicine (J-mit), 2019 | 2019 |