Browsing by Author MAK, CCY

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 中
Showing results 9 to 14 of 14 < previous 
TitleAuthor(s)Issue Date
 
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept
Journal:npj Genomic Medicine
Lee, MKwong, KYChui, MCMCHAU, FTJMak, CCYAu, LKSLo, HMChan, YKYepez, VAGagneur, JKan, SYAChung, BHY
2022
 
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey
Journal:npj Genomic Medicine
Mak, CCYLeung, KCMok, TKGYeung, KSYang, WFung, CWChan, HSSLee, SLLee, NCPfundt, RLau, YLChung, BHY
2018
 
Identification of epigenetic alterations in imprinting growth disorders
Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting
Wong, WLChu, WYYeung, KSMak, CCYWong, KYLi, RHWTang, MHYChung, BHY
2014
 
Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction
Journal:Circulation: Genomic and Precision Medicine
Ma, ACHMak, CCYYeung, KSPei, SLCYing, DYU, MHCHasan, KMMChen, XChow, PCCheung, YFChung, BHY
2020
 
Novel damaging mutations in CC2D1A suggest a role in human heterotaxy and ciliary dysfunction
Proceeding/Conference:American Society of Human Genetics (ASHG) Virtual Meeting, 2020
Chung, BHYMa, ACHMak, CCYYeung, KSDing, JPei, LCSYing, DChow, PCYu, HCHasan, KMMChen, XCheung, YF
2020
 
Understanding and perception of direct‐to‐consumer genetic testing in Hong Kong
Journal:Journal of Genetic Counseling
Hui, VCCLi, HCChow, JHKNg, CSCLui, CYWFung, JLFMak, CCYChung, BHYLau, KK
2021
Showing results 9 to 14 of 14 < previous