Browsing by Author Pajusalu, S

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Showing results 1 to 5 of 5
TitleAuthor(s)Issue DateViews
 
A three-year follow up study on 104 exome-sequenced patients with paediatric-onset diseases: Exome reanalysis and the impacts on clinical management and outcome
Proceeding/Conference:European Human Genetics Virtual Conference: ESHG 2020.2 - Live in your Living Room, 2020
Fung, LFHuang, SYu, HCChung, CYChan, MCYPajusalu, SLek, MChung, BHY
2020
64
 
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis
Journal:npj Genomic Medicine
Fung, JLFYU, MHCHuang, SCHUNG, CCYChan, MCYPajusalu, SMak, CCYHui, VCCTSANG, MHYYeung, KSLek, MChung, BHY
2020
35
 
Exome sequencing in paediatric patients with movement disorders [accepted - OJRD-D-20-00713R2]
Journal:Orphanet Journal of Rare Diseases
Kwong, AKYTSANG, MHYFung, JLFMak, CCYChan, KLSRodenburg, RJTLek, MHuang, SPajusalu, SYau, MMTsoi, CFung, SLiu, KTMa, CKWong, SYau, EKCTai, SMFung, ELWWu, NSPTsung, LYSmeitink, JChung, BHYFung, CW
2021
44
 
Reanalyzing clinical whole exome sequencing (WES) data aprovides additional diagnosis in paediatric-onset undiagnosed diseases – a Yale-HKU collaborative study
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
Fung, LFHuang, SPajusalu, SYu, HCChan, MMak, CHui, VChung, CYLek, MChung, BHY
2019
 
Reanalyzing clinical whole exome sequencing (WES) data provides additional diagnosis in paediatric-onset undiagnowed diseases – A Yale-HKU collaboration
Proceeding/Conference:Asia-Pacific Conference on Human Genetics (APCHG) 2019
Fung, LFHuang, SPajusalu, SYU, HCChan, MLek, MChung, BHY
2019
Showing results 1 to 5 of 5