Browsing by Author Kan, SYA

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TitleAuthor(s)Issue DateViews
 
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
26
 
2017
159
 
Two unusual cases of haemoglobin Bart’s hydrops fetalis due to uniparental disomy or non-paternity.
Journal:Fetal Diagnosis and Therapy: clinical advances and basic research
2014
49
2013
90
 
2014
107
 
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
94
 
What is the Diagnosis?
Journal:Hong Kong Journal of Paediatrics (New series)
2016
41
 
2014
96
 
2017
23