Showing results 2 to 21 of 77
< previous
next >
Title | Author(s) | Issue Date | |
---|---|---|---|
2018 | |||
A DYNC1H1 mutation causes a lower extremity predominance spinal muscular atrophy Proceeding/Conference:Annual Scientific Meeting of the Asian and Oceanian Myology Center, AOMC 2016 | 2016 | ||
A feasibility study for rapid Whole-Exome Sequencing for paediatric genetic disorders in Hong Kong Proceeding/Conference:European Human Genetics Conference, ESGH 2017 | 2017 | ||
A novel role of CC2D1A in human heterotaxy and ciliary dysfunction Proceeding/Conference:Joint Annual Scientific Meeting 2020 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 | ||
2018 | |||
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35 Journal:Parkinsonism & Related Disorders | 2019 | ||
2020 | |||
YU, MHCChan, MCYCHUNG, CCYLi, AWTYip, CYWMak, CCYCHAU, JFTLEE, MFung, JLFTSANG, MHYChan, JCKWong, WHSYang, JChui, WCMChung, PHYYang, WLee, SLChan, GCFTam, PKHLau, YLTang, CSMYeung, KSChung, BHY Editor(s):Limdi, N | 2021 | ||
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population (e-poster) Proceeding/Conference:Joint Annual Scientific Meeting 2020 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 | ||
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data Journal:Journal of Human Genetics | 2021 | ||
Actionable secondary findings in Hong Kong Chinese based on exome sequencing data Proceeding/Conference:Joint Annual Scientific Meeting 2020 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 | ||
2022 | |||
2022 | |||
Application of whole exome sequencing in neuromuscular disorders patients in Hong Kong Proceeding/Conference:2nd Joint Annual Research & Scientific Meeting 2018 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association and Hong Kong College of Paediatric Nursing | 2018 | ||
The Application of Whole-Exome Sequencing in Diagnosis Pediatric Rare Disease in Hong Kong Journal:North American Journal of Medicine and Science | 2014 | ||
Asthma subtypes and risk of cardiovascular disease: A Mendelian randomization study Journal:Pediatric Allergy and Immunology | 1-Jul-2023 | ||
2019 | |||
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis Journal:Molecular Genetics & Genomic Medicine | 2017 | ||
CFTR: I1023R is a rare but recurrent disease-causing mutation found in Chinese patients with cystic fibrosis Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2014 | 2014 | ||
CFTR: p.I1023R is a rare but recurrent disease-causing mutation found in Chinese patients with Cystic Fibrosis Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2014 | 2014 |