Showing results 1 to 20 of 30
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| Title | Author(s) | Issue Date | |
|---|---|---|---|
A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome Journal:American Journal of Medical Genetics Part A | 2020 | ||
A pilot study on the clinical utility of blocker displacement amplification to detect rare alleles in mosaicism 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 | ||
| 2020 | |||
YU, MHCChan, MCYCHUNG, CCYLi, AWTYip, CYWMak, CCYCHAU, JFTLEE, MFung, JLFTSANG, MHYChan, JCKWong, WHSYang, JChui, WCMChung, PHYYang, WLee, SLChan, GCFTam, PKHLau, YLTang, CSMYeung, KSChung, BHY Editor(s):Limdi, N | 2021 | ||
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data Journal:Journal of Human Genetics | 2021 | ||
Coffin–Lowry syndrome in Chinese Journal:American Journal of Medical Genetics Part A | 2019 | ||
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 | ||
Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong Journal:BMC Pregnancy and Childbirth | 2020 | ||
| 2020 | |||
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 | ||
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 | ||
Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients Journal:Molecular Genetics & Genomic Medicine | 2020 | ||
'Do language and culture really matter?’: A trans‐disciplinary investigation of cultural diversity in genetic counseling in Hong Kong Journal:Journal of Genetic Counseling | 2021 | ||
Evaluating the clinical utility of genome sequencing for cytogenetically balanced chromosomal abnormalities in prenatal diagnosis Proceeding/Conference:Health Research Symposium 2021 | 2021 | ||
| 2021 | |||
Exome sequencing in paediatric patients with movement disorders [accepted - OJRD-D-20-00713R2] Journal:Orphanet Journal of Rare Diseases | 2021 | ||
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 | ||
Facioscapulohumeral dystrophy (FSHD) type 1 – From infantile to late adult onset Proceeding/Conference:Joint Annual Scientific Meeting 2020 (Virtual Meeting) 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 | ||
Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions Journal:European Journal of Medical Genetics | 2021 | ||
High diagnostic yield by whole exome sequencing in a cohort of patients with movement disorders and/or progressive spasticity – possible targeted treatment implications and a way to precison medicine 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 |