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Showing results 1 to 11 of 11

	Title	Author(s)	Issue Date	Views
	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	50
	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	123
	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	48
	Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T>A and 79G>T in RMRP gene Journal:Prenatal Diagnosis	Lam, ACF Chan, DHC Tong, TMF Tang, MHY Lo, SYF Lo, IFM Lam, STS	2006
	A second report of p.Pro986Leu variant in COL2A1 - phenotypic overlap with SEDC and other forms of type II collagenopathies Journal:American Journal of Medical Genetics (Part A)	Chung, BHY Luk, HM Lo, IFM Lam, STS Li, RHW	2013
	Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification Journal:Fertility and Sterility	Chow, JFC Yeung, WSB Lau, EYL Lam, STS Tong, T Ng, EHY Ho, PC	2009
	Spontaneous growth in Chinese patients with Turner's syndrome and influence of karyotype Journal:Acta Paediatrica, International Journal of Paediatrics	Low, LCK Sham, C Kwan, E Karlberg, J Tang, G Cheung, PT Pang, H Tse, W But, B Yu, CM Lam, STS	1997	193
	Thanatophoric dysplasia variant, San Diego type in a Chinese fetus, caused by C746G missense mutation in FGFR3 gene Journal:Hong Kong Journal of Paediatrics	Lam, ACF Tong, TMF Tang, MHY Lo, S Lee, CP Lau, E Lam, STS	2006	116
	Two cases of spondylothoracic dysostosis (Jarcho Levin syndrome) in Chinese population Proceeding/Conference:Asia Pacific Conference on Human Genetics, 2010	Lai, CWS Lau, EWL Lo, IFM Chiu, WK Law, CW Tong, TMF Lam, STS	2011	61
	Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: Implications in transitional care Journal:European Journal of Medical Genetics	Liu, APY Chow, PC Lee, PPW Mok, GTK Tang, WF Lau, ETK Lam, STS Chan, YK Kan, SYA Chau, AKT Cheung, YF Lau, YL Chung, BHY	2014	108

Showing results 1 to 11 of 11