Browsing by Author Luk, HM

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TitleAuthor(s)Issue DateViews
 
A prenatal case of Noonan syndrome with cystic hygroma and normal karyotype
Proceeding/Conference:1st BCM-CUHK (Baylor College of Medicine-The Chinese University of Hong Kong) Joint Symposium in Clinical Genetics and Birth Defects, 2017
2017
6
 
2018
29
 
2012
47
 
2015
58
 
Clinical Quiz - What is the Diagnosis?
Journal:Hong Kong Journal of Paediatrics (New series)
2014
58
 
Computer-aided facial recognition of Chinese individuals with Angelman Syndrome in Hong Kong
Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016
2016
22
 
Computer-aided facial recognition of Chinese individuals with Angelman syndrome in Hong Kong
Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians cum Hong Kong-Guangdong-Shanghai-Chongqing Paediatric Exchange Meeting, 2016
2016
23
 
Contribution of gain-of-function mutations in R1T1 to the pathogenesis of Noonan syndrome: a report of 3 new Chinese patients in Hong Kong
Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting
2014
103
 
Cover Image, Volume 176A, Number 5, May 2018
Journal:American Journal of Medical Genetics Part A
2018
12
 
2013
85
 
2014
92
 
2018
26
 
2018
32
 
2016
35
 
2018
16
 
2015
23
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
101
 
2013
56
 
28-Jan-2014
64
 
Prenatal diagnosis and long term follow up of a patient with mosaic variegated aneuploidy and its molecular analysis
Proceeding/Conference:22nd International Conference on Prenatal Diagnosis and Therapy, 2018
2018
8