Browsing "Department of Paediatrics & Adolescent Medicine" by Author kan, sya

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TitleAuthor(s)Issue DateViews
 
2013
80
 
2019
61
 
2014
67
 
Identification of a novel homozygous missense mutation in ABR causing cerebellar hypoplasia with early lethality
Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016
2016
52
 
2018
111
 
2018
 
2022
 
Next Generation Sequencing in Prenatal Diagnosis
Proceeding/Conference:12th Asia-Pacific Conference on Human Genetics "Genomic Medicine and Clinical Practice", Bangkok, Thailand, 8-10 November 2017
2017
48
 
Next generation sequencing in prenatal diagnosis
Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017
2017
 
2017
109
 
2018
79
 
28-Jan-2014
88
 
2022
9
 
The KLHL40C.1516A>C is a Chinese-specific founder mutation in causing nemaline myopathy 8
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
 
2014
108
 
2016
45
 
Use of clinical chromosomal microarray in Hong Kong Chinese patients with autism spectrum disorder - implication of a copy number variation involving DPP10
Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016
2016
84
 
What is the Diagnosis?
Journal:Hong Kong Journal of Paediatrics (New series)
2016
37
 
2014
95