Browsing by Author Chu, WY

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TitleAuthor(s)Issue DateViews
 
2018
35
 
2017
87
 
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
89
 
Challenges faced by little people of Hong Kong: narrative medicine in clinical genetics practice
Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting
2014
47
 
2015
64
 
2016
64
 
20-Oct-2014
102
 
Computer-aided facial recognition of Chinese individuals with Angelman syndrome 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
37
 
Contribution of gain-of-function mutations in R1T1 to the pathogenesis of Noonan syndrome: a report of 3 new Chinese patients in Hong Kong
Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting
2014
110
 
2016
34
 
2017
30
 
2016
40
 
Factors influencing length of stay amongst people with Down's Syndrome
Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)
2013
61
 
Genetic Couselling in Hong Kong
Proceeding/Conference:APCHG 2015: Genetic Counseling Pre-conference Workshop
2015
25
 
Genetic diagnosis of early onset epilepsy by whole exome sequencing and chromosomal array in Hong Kong
Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016
2016
28
 
2019
16
 
Health-related quality of life of Chinese individuals with Down Syndrome in Hong Kong
Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)
2013
74
 
2014
85
 
Identification of a CFTR founder mutations, c.3068T>G:p.I1023R, which causes protein trafficking defects in Chinese patients with cystic fibrosis
Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016
2016
58
 
Identification of a novel homozygous missense mutation in ABR causing cerebellar hypoplasia with early lethality
Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016
2016
39