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| Title | Author(s) | Issue Date | Views | |
|---|---|---|---|---|
| 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 | ||
International Paediatric Mitochondrial Disease Scale Journal:Journal of Inherited Metabolic Disease | 2016 | 42 | ||
Kbg syndrome: Clinical features and specific dental findings Journal:Pediatric Dentistry | 2010 | 175 | ||
Lathosterolosis: A Disorder Of Cholesterol Biosynthesis Resembling Smith-lemli-opitz Syndrome Journal:Journal Of Inherited Metabolic Disease | 2014 | 75 | ||
MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG Journal:Journal of Mass Spectrometry | 2017 | 45 | ||
Megaconial Congenital Muscular Dystrophy: Same Novel Homozygous Mutation In Chkb Gene In Two Unrelated Chinese Patients Journal:Neuromuscular Disorders | 2020 | 46 | ||
Minimum Configuration Design for Digital Control of Power Converters Proceeding/Conference:International Exhibition and Conference for Power Electronics, Intelligent Motion and Power Quality (PCIM Europe 2007). Proceedings of a meeting held 22-24 May 2007, Nuremberg, Germany | 2007 | 110 | ||
| 2004 | 163 | |||
MR imaging of spinal tumors in children with neurofibromatosis I Journal:American Journal of Roentgenology | 2003 | 92 | ||
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 | 23 | ||
Mycophenolate mofetil inhibits nitric oxide generation during renal ischemia repefusion injury Proceeding/Conference:Transplantation | 1999 | 106 |