Browsing "Paediatrics & Adolescent Medicine: Conference papers" by Author lo, ifm

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Showing results 1 to 6 of 6
TitleAuthor(s)Issue Date
 
Collagen VI related myopathy: Clinical variability of triple helical domain mutations of COL6A mutations
Proceeding/Conference:International Child Neurology Congress. Mumbai, India. 2018
Chan, HSSKwong, KYLuk, HMLo, IFMFung, STHTsang, HYMChung, BHYChan, AOK
2019
 
Contribution of gain-of-function mutations in R1T1 to the pathogenesis of Noonan syndrome: a report of 3 new Chinese patients in Hong Kong
Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting
Leung, KCMa, CHGao, WChu, WYWong, WLJin, DLo, IFMLuk, HMChung, BHY
2014
 
Evidence of spread of X Chromosome inactivation on Chromosome 15 in a girl with an Unbalanced t(X;15) Translocation
Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)
Yeung, KSChee, WYYLuk, HMTang, MHYLau, ETKShuen, YALo, IFMChan, YKChung, BHY
2013
 
Massive parallel sequencing for the genetic diagnosis of rasopathies: a study of 58 Chinese patients in Hong Kong
Proceeding/Conference:Annual Scientific Meeting of the Canadian College of Medical Geneticists, CCMG 2013
Lo, IFMLeung, KCLuk, MHMWong, WLTang, LYFChu, YWYKan, ASYTang, MHYLam, STSYang, WChan, YKChung, BHY
2013
 
NSD1+/- DNA methylation (DNAm) signature: A novel functional diagnostic tool for Sotos syndrome
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2014
Chonufani, SCytrynbaum, CChung, BHYTurinsky, ALGrafodatskaya, DChen, YALuk, HMLo, IFMLam, STSStavropoulos, DJGibson, BReardon, MBrudno, MMendoza-Londono, RChitayat, DWeksberg, R
2014
 
Territory wide study of patients with dystrophinopathy in Hong Kong
Proceeding/Conference:Neuromuscular Disorders
Chan, SHSLo, IFMCherk, SCheng, WWSFung, EYeung, WLLee, WCWong, SMa, CKLTai, SMYau, MMNg, GWu, SPWong, VCN
2013
Showing results 1 to 6 of 6