Showing results 1 to 20 of 21
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Title | Author(s) | Issue Date | |
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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 | ||
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 pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population (e-poster) 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 | ||
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data Journal:Journal of Human Genetics | 2021 | ||
Actionable secondary findings in Hong Kong Chinese based on 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 | ||
2022 | |||
Clinical and molecular features of pleuropulmonary blastoma in children in Hong Kong: case reports Journal:Hong Kong Medical Journal | 2022 | ||
2022 | |||
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 | ||
2022 | |||
2009 | |||
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 | ||
Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis Journal:Frontiers in Genetics | 2022 | ||
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 | ||
Importance of cascade family screening and precision medicine for patients with familial hyperkalaemia: a case report Journal:Hong Kong Medical Journal | 2022 | ||
Invasive cerebral phaeohyphomycosis in a Chinese boy with CARD9 deficiency and showing unique radiological features, managed with surgical excision and antifungal treatment Journal:International Journal of Infectious Diseases | 2021 | ||
Psychosocial outcomes in long term survivors of childhood cancer in Hong Kong Proceeding/Conference:Pediatric Blood & Cancer | 2013 | ||
Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review Journal:Pediatric Blood & Cancer | 2023 | ||
Retrospective cohort analysis on couples seeking pre-implantation genetic testing over a 5-year period 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 |