Showing results 2 to 11 of 11
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Title | Author(s) | Issue Date | |
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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 | ||
Copy number variation in Hong Kong patients with autism spectrum disorder Proceeding/Conference:Hong Kong Journal of Paediatrics (New series) | 2016 | ||
Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong Journal:BMC Pregnancy and Childbirth | 2020 | ||
Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients Journal:Molecular Genetics & Genomic Medicine | 2020 | ||
Evaluating the diagnostgic impact and cost of rapid whole-exome sequencing for rare genetic diseases in Hong Kong 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 | ||
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 | ||
2016 | |||
Muddling Through Muscle Genes – The Quest For Diagnosis In 50 Patients With Neuromuscular Disorders Using Whole Exome Sequencing. Proceeding/Conference:Asian Oceanian Congress of Child Neurology | 2019 | ||
Mutation in PIK3CA leading to developmental mosaic disorders Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2015 | 2015 | ||
Next generation sequencing in prenatal diagnosis Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017 | 2017 |