Browsing by Author Ying, D

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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
 
2014
105
 
2017
158
 
2017
139
 
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
91
 
2015
67
 
2013
155
 
2016
58
 
2015
215
 
2010
365
 
2015
187
 
2015
122
 
2011
154
 
2014
81
2015
84
 
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
89
 
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
61
 
2017
96
 
2009
198
 
2013
188