Showing results 5 to 21 of 21
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| Title | Author(s) | Issue Date | Views | |
|---|---|---|---|---|
Clinical utility of whole-genome sequencing for cytogenetically balanced chromosomal abnormalities in genetic diseases 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 | 39 | ||
Comprehensive genetic evaluation in paediatric-onset mitochondrial diseases 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 | 50 | ||
| 2020 | 25 | |||
Detecting expansion of short tandem repeat in whole exome sequencing data of movement disorder cohort with bioinformatics tool expansion hunter Proceeding/Conference:Joint Annual Scientific Meeting 2020 of The Hong Kong Paediatric Society (HKPS), Hong Kong College of Paediatricians (HKCPaed), Hong Kong Paediatric Nurses Association (HKPNA) and Hong Kong College of Paediatric Nursing (HKCPN) | 2020 | 46 | ||
Diagnostic outcome of whole exome sequencing in Hong Kong familes with autism spectrum disorder 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 | 76 | ||
Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients Journal:Molecular Genetics & Genomic Medicine | 2020 | 56 | ||
Evaluating High‐Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses Journal:Journal of the American Heart Association Cardiovascular and Cerebrovascular Disease | 21-Feb-2023 | |||
Evaluating the clinical utility of genome sequencing for cytogenetically balanced chromosomal abnormalities in prenatal diagnosis Proceeding/Conference:Health Research Symposium 2021 | 2021 | 16 | ||
| 2021 | 44 | |||
Expanded carrier screening panels and the prevention of inherited monogenic diseases: The first key in precision medicine evaluated using 1116 Hong Kong Chinese exome sequencing data Proceeding/Conference:Joint Annual Scientific Meeting 2020 of The Hong Kong Paediatric Society (HKPS), Hong Kong College of Paediatricians (HKCPaed), Hong Kong Paediatric Nurses Association (HKPNA) and Hong Kong College of Paediatric Nursing (HKCPN) | 2020 | 53 | ||
How common is mosaicism? The 9 years-experience in a university affiliated genetic clinic 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 | 62 | ||
Megaconial Congenital Muscular Dystrophy: Same Novel Homozygous Mutation In Chkb Gene In Two Unrelated Chinese Patients Journal:Neuromuscular Disorders | 2020 | 46 | ||
Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction Journal:Circulation: Genomic and Precision Medicine | 2020 | 33 | ||
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 | 45 | ||
Next generation sequencing in prenatal diagnosis Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017 | 2017 | 52 | ||
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese Journal:npj Genomic Medicine | 2019 | 68 | ||
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 | 36 |