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Showing results 1 to 14 of 14

	Title	Author(s)	Issue Date	Views
	Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA) Journal:Clinical Biochemistry	Lai, KKS Lo, IFM Tong, TMF Cheng, LYL Lam, STS	2006	160
	Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong Journal:American Journal of Medical Genetics Part C: Seminars in Medical Genetics	Yu, KPT Luk, HM Leung, KC Mak, CCY Cheng, SSW Hau, EWL Chan, DKH Lam, STS Tong, TMF Chung, BHY Lo, FMI	2019	81
	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	105
	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	94
	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	155
	Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes Journal:American Journal of Medical Genetics, Part A	Chung, BHY Lam, STS Tong, TMF Li, SYH Lun, KS Chan, DHC Fok, SFS Or, JSF Smith, DK Yang, W Lau, YL	2009	62
	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	45
	Molecular defects in haemophilia B: Detection by direct restriction enzyme analysis Journal:British Journal of Haematology	Chan, V Yip, B Tong, TMF Chan, TPT Lau, K Yam, I Chan, TK	1991	155
	Multiple Xba I polymorphisms in Haemophilia A (I: Reply) Journal:British Journal of Haematology	Chan, V Tong, TMF Chan, TK	1990	135
	Multiple XbaI polymorphisms for carrier detection and prenatal diagnosis of haemophilia A Journal:British Journal of Haematology	Chan, V Tong, TMF Chan, TPT Tang, M Wan, CW Chan, FY Chu, YC Chan, TK	1989	140
	A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A Journal:Blood	Chan, V Chan, TK Tong, TMF Todd, D	1989	155
	Silver-Russell syndrome in Hong Kong Journal:Hong Kong Medical Journal	Luk, HM YEUNG, KS Wong, WL Chung, BHY Tong, TMF Lo, IFM	2016	58
	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	82
	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	132

Showing results 1 to 14 of 14