Browsing by Author Mak, CCY

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TitleAuthor(s)Issue DateViews
 
22q11.2 deletion syndrome in diverse populations
Journal:American Journal of Medical Genetics Part A
2017
48
 
2018
26
 
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
24
 
A feasibility study for rapid Whole-Exome Sequencing for paediatric genetic disorders in Hong Kong
Proceeding/Conference:European Human Genetics Conference, ESGH 2017
2017
5
 
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
1
 
2019
71
 
2020
 
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
6
 
2020
 
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
4
 
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
1
 
2014
80
 
2019
21
 
2017
64
 
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
74
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
 
Clinical and Genetic Profile of Congenital Long QT Syndrome in Hong Kong - 18-year Experience in Paediatrics
Proceeding/Conference:26th Annual Scientific Congress of Hong Kong College of Cardiology, 2018
2018
 
2018
19
 
Clinical application of whole exome sequencing for paediatric undiagnosed diseases in Hong Kong: experience from first sixty cases
Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2015
2015
38