Browsing by Author Tsang, MHY

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Showing results 11 to 16 of 16 < previous 
TitleAuthor(s)Issue DateViews
 
Megaconial Congenital Muscular Dystrophy: Same Novel Homozygous Mutation In Chkb Gene In Two Unrelated Chinese Patients
Journal:Neuromuscular Disorders
Chan, HSSHo, RSLKhong, PLChung, BHYTSANG, MHYYU, MHCYeung, MCYChan, AOKFung, CW
2020
46
 
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
Tsang, MHYChiu, ATGKwong, BMHRui, LIANGYu, MHCYeung, KSHo, WHLMak, CCYLeung, GKCMuntoni, FChung, BHYChan, HSS
2019
45
 
Next generation sequencing in prenatal diagnosis
Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017
Leung, GKCMak, CCYPei, SLCTsang, MHYYu, MHCYeung, KSMok, GTKHui, APWTang, MHYChan, KYKKan, SYAChung, BHY
2017
52
 
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
Journal:npj Genomic Medicine
YU, MHCTSANG, MHYLai, SHo, MSPTse, DMLWillis, BKwong, AKYChou, YYLin, SPQuinzii, CMHwu, WLChien, YHKuo, PLChan, VCMTsoi, CChong, SCRodenburg, RJTSmetinik, JMak, CCYYeung, KSFung, LFLam, WHui, JLee, NCFung, CWChung, BHY
2019
68
 
The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes
Journal:Molecular Genetics & Genomic Medicine
Yeung, KSYu, FNYFung, CWWong, SLee, HCHFung, STHFung, GPGLeung, KYChung, WHLee, YTNg, VKSYU, HCFung, JLFTSANG, MHYChan, KYKChan, SHSKan, ASYChung, BHY
2020
49
 
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
Yeung, KSYu, YNFung, CWWong, SLee, HCHFung, STHFung, GPGYu, MHCFung, JLFTsang, MHYChan, YKChan, HSSKan, SYAChung, BHY
2019
36
Showing results 11 to 16 of 16 < previous