Browsing "Department of Paediatrics & Adolescent Medicine" by Title 

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TitleAuthor(s)Issue DateViews
 
2013
77
 
1992
60
 
Identification and evaluation of children with Autism Spectrum Disorder
Proceeding/Conference:ICNA Symposium 2008 & Peking University International Forum on Child Neurology
2008
137
 
Advisor(s):Yang, WLau, YL
2021
24
 
2007
 
Advisor(s):Yang, WLau, YL
2012
215
 
Identification of 21 novel and 3 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypes
Proceeding/Conference:Annual Congress of the Asian Society for Pediatric Research, ASPR 2006
2006
114
 
2006
101
2013
69
 
2013
17
2013
82
 
2006
 
2021
60
 
2007
 
Identification of 7 novel TGFBR2 mutations in Chinese with marfan syndrome (MFS) and related phenotypes using DHPLC
Proceeding/Conference:Congress of Asian Society for Pediatric Research, ASPR 2007
2007
106
2008
 
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
30
 
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
52
 
2009
136
 
2006
91