Results 1 to 13 of 13
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TypeTitleAuthor(s)YearViews
Two cases of spondylothoracic dysostosis (Jarcho Levin syndrome) in Chinese populationLai, CWS; Lau, EWL; Lo, IFM; Chiu, WK; Law, CW; Tong, TMF; Lam, STS201176
 
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypesChung, BHY; Lam, STS; Tong, TMF; Li, SYH; Lun, KS; Chan, DHC; Fok, SFS; Or, JSF; Smith, DK; Yang, W; Lau, YL2009126
 
Identification of 21 novel and 3 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypes (oral presentation)Chung, BHY; Lam, STS; Tong, TMF; Li, YH; Lun, KS; Chan, HC; Or, SF; Lau, YL200798
 
Identification of 21 novel and 3 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypesChung, BHY; Lam, STS; Tong, TMF; Li, YH; Lun, KS; Chan, HC; Or, SF; Lau, YL2006114
 
Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T>A and 79G>T in RMRP geneLam, ACF; Chan, DHC; Tong, TMF; Tang, MHY; Lo, SYF; Lo, IFM; Lam, STS200660
 
Identification of 25 novel and 2 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypesChung, BHY; Lam, STS; Tong, TMF; Li, YH; Lun, KS; Chan, HC; Or, SF; Lau, YL200685
 
Identification of 21 novel and 3 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypesLun, KS; Lam, STS; Tong, TMF; Chung, BHY; Li, YH; Chan, HC; Or, SF; Lau, YL200686
 
Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA)Lai, KKS; Lo, IFM; Tong, TMF; Cheng, LYL; Lam, STS2006139
 
Thanatophoric dysplasia variant, San Diego type in a Chinese fetus, caused by C746G missense mutation in FGFR3 geneLam, ACF; Tong, TMF; Tang, MHY; Lo, S; Lee, CP; Lau, E; Lam, STS200664
 
Molecular defects in haemophilia B: Detection by direct restriction enzyme analysisChan, V; Yip, B; Tong, TMF; Chan, TPT; Lau, K; Yam, I; Chan, TK199159
 
Multiple Xba I polymorphisms in Haemophilia A (I: Reply)Chan, V; Tong, TMF; Chan, TK199041
 
A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia AChan, V; Chan, TK; Tong, TMF; Todd, D198951
 
Multiple XbaI polymorphisms for carrier detection and prenatal diagnosis of haemophilia AChan, V; Tong, TMF; Chan, TPT; Tang, M; Wan, CW; Chan, FY; Chu, YC; Chan, TK198959
 
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