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Showing results 1 to 11 of 11

	Title	Author(s)	Issue Date
	22q11.2 deletion syndrome in adult Chinese Patients with Conotruncal Anomalies: dysmorphisms, clinical features and underdiagnosis Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Liu, APY Chow, PC Lee, PPW Mok, TKG Tang, WF Lau, ETK Lam, STS Chan, KY Kan, SYA Chau, AKT Cheung, YF Lau, YL Chung, BHY	2013
	Chinese patients with rasopathies: Detection of 29 known and novel variants using next-generation sequencing (NGS) Proceeding/Conference:36th Annual David W. Smith Workshop	Leung, KC Lo, I Luk, HM Tang, HMV Gao, W Wong, WL Chu, WY Lam, STS Ma, CH Jin, D Chan, YK Chung, BHY	2015
	Identification of 21 novel and 3 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypes Proceeding/Conference:HUGO / HUGO-AP 2006	Lun, KS Lam, STS Tong, TMF Chung, BHY Li, YH Chan, HC Or, SF Lau, YL	2006
	Identification of 21 novel and 3 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypes Proceeding/Conference:Annual Congress of the Asian Society for Pediatric Research, ASPR 2006	Chung, BHY Lam, STS Tong, TMF Li, YH Lun, KS Chan, HC Or, SF Lau, YL	2006
	Identification of 25 novel and 2 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypes Proceeding/Conference:HKPS-HKPNA 2006 Joint Annual Scientific Meeting	Chung, BHY Lam, STS Tong, TMF Li, YH Lun, KS Chan, HC Or, SF Lau, YL	2006
	Identification of 7 novel TGFBR2 (Transforming Growth Factor-Beta Receptor 2) mutations in Chinese with Marfan syndrome (MFS) and related phenotypes using denaturing high performance liquid chromatography (DHPLC) Proceeding/Conference:International Congress of Pediatrics, IPA 2007	Chung, BHY Li, YH Lam, STS Yang, W Lun, KS Lau, YL	2007
	Identification of 7 novel TGFBR2 mutations in Chinese with marfan syndrome (MFS) and related phenotypes using DHPLC Proceeding/Conference:Congress of Asian Society for Pediatric Research, ASPR 2007	Chung, BHY Li, YH Lam, STS Yang, W Lun, KS Lau, YL	2007
	Identification of 7 novel transforming growth factor β receptor 2 mutations in Chinese patients with marfan syndrome Proceeding/Conference:Pediatrics	Chung, BHY Li, YH Lam, STS Yang, W Lun, KS Lau, YL	2008
	Identifying genetic mutations in patients with Rasopathies using a Next Generation Sequencing Diagnostic Pipeline in Hong Kong Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Lo, IFM Leung, KC Luk, HM Tang, VHM Gao, W Wong, WL Tang, LYF Chu, WY Kan, SYA Tang, MHY Lam, STS Yang, W Ma, CH Jin, D Chan, YK Chung, BHY	2014
	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, IFM Leung, KC Luk, MHM Wong, WL Tang, LYF Chu, YWY Kan, ASY Tang, MHY Lam, STS Yang, W Chan, YK Chung, 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, S Cytrynbaum, C Chung, BHY Turinsky, AL Grafodatskaya, D Chen, YA Luk, HM Lo, IFM Lam, STS Stavropoulos, DJ Gibson, B Reardon, M Brudno, M Mendoza-Londono, R Chitayat, D Weksberg, R	2014

Showing results 1 to 11 of 11