Browsing by Author Luk, HM

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Showing results 1 to 20 of 46  next >
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
34
 
2018
93
 
2012
76
 
2015
67
 
Clinical Quiz - What is the Diagnosis?
Journal:Hong Kong Journal of Paediatrics (New series)
2014
49
 
Coffin–Lowry syndrome in Chinese
Journal:American Journal of Medical Genetics Part A
2019
35
 
Collagen VI and XII related myopathies: clinical variability and novel variants found in Hong Kong patients
Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, & Hong Kong College of Paediatric Nursing
2019
53
 
Collagen VI related myopathy: Clinical variability of triple helical domain mutations of COL6A mutations
Proceeding/Conference:International Child Neurology Congress. Mumbai, India. 2018
2019
30
 
Comprehensive genetic evaluation in paediatric-onset mitochondrial diseases
Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, & Hong Kong College of Paediatric Nursing
2019
40
 
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
39
 
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
70
 
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
112
 
2020
39
 
Cover Image, Volume 176A, Number 5, May 2018
Journal:American Journal of Medical Genetics Part A
2018
88
 
2021
6
 
2020
44
 
2020
40
 
2013
76
 
Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong
Journal:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
2019
110
 
Facioscapulohumeral dystrophy (FSHD) type 1 – From infantile to late adult onset
Proceeding/Conference:Joint Annual Scientific Meeting 2020 (Virtual Meeting) of The Hong Kong Paediatric Society (HKPS), Hong Kong College of Paediatricians (HKCPaed), Hong Kong Paediatric Nurses Association (HKPNA) and Hong Kong College of Paediatric Nursing (HKCPN)
2020
5