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Showing results 16 to 29 of 29 < previous

	Title	Author(s)	Issue Date	Views
	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
	Niemann-Pick disease in the Chinese. A report of four cases in three Chinese families Journal:Pathology	Collins, RJ Liu, WT Lam, STS Lin, HJ	1989
	Normal cord blood thyroid-stimulating hormone in a child with resistance to thyroid hormone Journal:Neuroembryology and Aging	Chan, AOK Lam, CW Lo, IFM Lam, STS Shek, CC Tiu, SC Tong, SF	2005	149
	NSD1 mutations generate a genome-wide DNA methylation signature Journal:Nature Communications	Choufani, S Cytrynbaum, C Chung, BHY Turinsky, AL Grafodatskaya, D Chen, YA Cohen, ASA Dupuis, L Butcher, DT Siu, MT Luk, HM Lo, IFM Lam, STS Caluseriu, O Stavropoulos, DJ Reardon, W Mendoza-Londono, R Brudno, M Gibson, WT Chitayat, D	2015
	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
	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
	The impact of the multi-disciplinary molecular tumour board and integrative next generation sequencing on clinical outcomes in advanced solid tumours Journal:The Lancet Regional Health - Western Pacific	El Helali, A Lam, TC Ko, EYL Shih, DJH Chan, CK Wong, CHL Wong, JWH Cheung, LWT Lau, JKS Liu, APY Chan, ASY Loong, HH Lam, STS Chan, GCF Lee, VHF Yuen, KK Ng, WT Lee, AWM Ma, ESK	28-Apr-2023
	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
	Two Chinese Patients with Loeys-Dietz Syndrome: A Connecitve Tissue Disorder with Marfan-like Features and Vasculopathy Journal:Hong Kong Journal of Paediatrics (new series)	Ho, CCA Chan, SY Chow, PC Wong, KT Lun, KS Lo, IFM Lam, STS Chau, AKT Lau, YL Chung, BHY	2012	63
	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 16 to 29 of 29 < previous