Browsing by Author Lam, STS

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TitleAuthor(s)Issue DateViews
 
2013
86
 
2006
64
 
2015
44
 
2006
121
 
Diagnostic difficulties in Sanfilippo disease
Journal:Hong Kong Journal of Paediatrics
2006
41
 
1992
95
 
2006
57
 
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
64
 
2006
59
 
2007
55
 
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
51
2008
49
 
2009
106
 
2014
66
 
Massive parallel sequencing for the genetic diagnosis of rasopathies: a study of 58 Chinese patients in Hong Kong
Proceeding/Conference:Annual Scientific Meeting of the Canadian College of Medical Geneticists, CCMG 2013
2013
41
 
2006
64
 
1989
71
 
2005
138
 
2015
16
NSD1+/- DNA methylation (DNAm) signature: A novel functional diagnostic tool for Sotos syndrome
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2014
2014
81