Browsing by Author Lam, STS

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TitleAuthor(s)Issue DateViews
 
2013
69
 
2006
46
 
Chinese patients with rasopathies: Detection of 29 known and novel variants using next-generation sequencing (NGS)
Proceeding/Conference:Annual David W. Smith Workshop on Malformations and Morphogenesis, 2015
2015
26
 
2006
102
 
Diagnostic difficulties in Sanfilippo disease
Journal:Hong Kong Journal of Paediatrics
2006
32
 
1992
76
 
Identification of 21 novel and 3 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypes
Proceeding/Conference:Joint 6th Human Genome Organization (HUGO) Pacific Meeting & 7th Asia-Pacific Human Genetics Conference (HUGO-AP 2006)
2006
56
 
Identification of 21 novel and 3 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypes
Proceeding/Conference:2nd Congress of Asian Society for Pediatric Research (ASPR), Yokohama, Japan, 8-10 December 2006
2006
55
 
2007
54
 
Identification of 25 novel and 2 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypes
Proceeding/Conference:Joint Annual Scientific Meeting, The Hong Kong Paediatric Society and Hong Kong Paediatric Nurses Association, Queen Elizabeth Hospital, 7 January 2006
2006
60
 
2007
65
 
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
73
2008
64
 
2009
80
 
2014
39
 
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
24
 
2006
49
 
1989
54
 
2005
128
 
2015
8