Browsing by Author Leung, GKC

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Showing results 1 to 8 of 8
TitleAuthor(s)Issue DateViews
 
2017
37
 
Clinical application of whole exome sequencing for paediatric undiagnosed diseases in Hong Kong: experience from first sixty cases
Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2015
2015
91
 
Copy number variation in Hong Kong patients with autism spectrum disorder
Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)
2016
102
 
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
43
 
2016
48
 
Muddling Through Muscle Genes – The Quest For Diagnosis In 50 Patients With Neuromuscular Disorders Using Whole Exome Sequencing.
Proceeding/Conference:15th Asian Oceanian Congress Of Child Neurology 19-21 Sept 2019 Kuala Lumpur.
2019
3
 
Mutation in PIK3CA leading to developmental mosaic disorders
Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2015
2015
138
 
Next generation sequencing in prenatal diagnosis
Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017
2017
47