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

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 28  next >
TitleAuthor(s)Issue DateViews
 
2013
98
 
2018
26
 
2014
33
 
20-Oct-2014
87
 
Clinical Quiz - What is the Diagnosis
Journal:Hong Kong Journal of Paediatrics (New series)
2018
7
 
Clinical utility of whole-genome sequencing for cytogenetically balanced chromosomal abnormalities in genetic diseases
Proceeding/Conference:Joint Annual Scientific Meeting 2019, HK College of Paediatricians, 28 Sept 2019
2019
 
Exome sequencing identifies compound heterozygous DYNC2H1 variants associated with short-rib polydactyly syndrome type III with involvement of omphalocele in a fetus.
Proceeding/Conference:23rd Internatinal Conference on Prenatal Diagnosis and Therapy (ISPD 2019), Singapore, 7-11 Sept 2019
2019
 
2019
28
 
2013
199
 
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
 
2013
68
 
2019
 
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
22
 
2018
12
 
2018
 
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
28
 
Next generation sequencing in prenatal diagnosis
Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017
2017
22
 
2017
19
 
2018
28