Browsing by Author Pei, LCS

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Showing results 1 to 8 of 8
TitleAuthor(s)Issue DateViews
 
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
45
 
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
61
 
COQ10 deficiency due to biallelic COQ4 mutations – An early onset mitochondrial disorder common in southern Chinese due to a founder mutation
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
 
2019
107
 
2017
96
 
2018
109
 
Novel damaging mutations in CC2D1A suggest a role in human heterotaxy and ciliary dysfunction
Proceeding/Conference:American Society of Human Genetics (ASHG) Virtual Meeting, 2020
2020
17
 
2018
135