Browsing by Author Lam, STS

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TitleAuthor(s)Issue DateViews
 
2006
107
 
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
119
 
2006
168
 
2007
132
 
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
111
2008
142
 
2009
99
 
2014
149
 
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
64
 
2006
78
 
1989
143
 
2005
135
 
2015
75
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
87
 
2013
32
 
2009
168
 
Spontaneous growth in Chinese patients with Turner's syndrome and influence of karyotype
Journal:Acta Paediatrica, International Journal of Paediatrics
1997
194
 
2006
107
 
Two cases of spondylothoracic dysostosis (Jarcho Levin syndrome) in Chinese population
Proceeding/Conference:Asia Pacific Conference on Human Genetics, 2010
2011
141
 
2012
94