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
99
 
2018
69
 
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
70
 
A feasibility study for rapid Whole-Exome Sequencing for paediatric genetic disorders in Hong Kong
Proceeding/Conference:European Human Genetics Conference, ESGH 2017
2017
80
 
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
25
 
2018
41
 
2019
85
 
2020
16
 
Editor(s):Limdi, N
2021
21
 
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
23
 
2021
18
 
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
26
 
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
56
 
2014
96
 
2019
43
 
2017
134
 
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
73
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
149
 
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
32
 
2018
85