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Results 1-25 of 497 (Search time: 0.123 seconds).

TitleAuthor(s)Issue DateViews
 
Clinical approach on skeletal dysplasia from the viewpoint of clinical genetics
Proceeding/Conference:1st Gachon Skeletal Dysplasia Symposium
2014
53
 
2013
213
 
2017
88
 
2017
69
 
22q11.2 deletion syndrome in diverse populations
Journal:American Journal of Medical Genetics Part A
2017
108
 
2017
86
 
A feasibility study for rapid Whole-Exome Sequencing for paediatric genetic disorders in Hong Kong
Proceeding/Conference:European Human Genetics Conference, ESGH 2017
2017
91
 
2002
33
 
NGS in Paediatrics - discoveries and challenges
Proceeding/Conference:International Symposium in Kanagawa 2017: The Progress of Neonatal Medicine in Asia
2017
25
 
Infant onset pancytopenia: a case report of fanconi anaemia managed with matched-sibling cord blood transplantation
Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting
2014
68
 
Unveiling the genetics of long QT syndrome: a local paediatric experience
Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)
2013
50
2013
99
Unveiling the genetics of long QT syndrome: a local paediatric experience
Proceeding/Conference:Journal of the Hong Kong College of Cardiology
2012
172
 
2003
129
 
The first reported case of the DRAGON gene deletion in human. A case with a de-novo interstitial deletion of chromosome 5q15-21.1
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009
2009
57
 
2004
216
 
2008
125
 
2007
144
 
Hong Kong childhood stroke registry - a study of 50 cases (1991-2002)
Proceeding/Conference:Hong Kong Medical Journal
2004
105
 
A DYNC1H1 mutation causes a lower extremity predominance spinal muscular atrophy
Proceeding/Conference:Annual Scientific Meeting of the Asian and Oceanian Myology Center, AOMC 2016
2016
73
 
2017
129
 
What is the Diagnosis?
Journal:Hong Kong Journal of Paediatrics (New series)
2016
38
 
2015
133
 
What is the Diagnosis ? - 1P36 deletion
Journal:Hong Kong Journal of Paediatrics (new series)
2015
40
 
What is the Diagnosis?
Journal:Hong Kong Journal of Paediatrics (New series)
2012
44