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
56
 
2018
24
 
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
42
 
A feasibility study for rapid Whole-Exome Sequencing for paediatric genetic disorders in Hong Kong
Proceeding/Conference:European Human Genetics Conference, ESGH 2017
2017
26
 
2018
11
 
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
17
 
2014
94
 
2017
75
 
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
81
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
111
 
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
9
 
2018
17
 
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
41
 
Clinical implications of large rare copy number variations in 110 Chinese patients with conotruncal heart disease
Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2014
2014
46
 
Copy number variation in Hong Kong patients with autism spectrum disorder
Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)
2016
78
 
2016
24
 
2018
21
 
2018
15
 
2016
30
 
Genetic diagnosis of drug-resistant epilepsy by whole exome sequencing and chromosomal array in Hong Kong
Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians cum Hong Kong-Guangdong-Shanghai-Chongqing Paediatric Exchange Meeting, 2016
2016
23