| Title | Author(s) | Year | View Count |  | A second report of p.Pro986Leu variant in COL2A1 - phenotypic overlap with SEDC and other forms of type II collagenopathies | Chung, BHY; Luk, HM; Lo, IFM; Lam, STS; Li, RHW | 2013 | 3 |
 | Two Chinese Patients with Loeys-Dietz Syndrome: A Connecitve Tissue Disorder with Marfan-like Features and Vasculopathy | Ho, CCA; Chan, SY; Chow, PC; Wong, KT; Lun, KS; Lo, IFM; Lam, STS; Chau, AKT; Lau, YL; Chung, BHY | 2012 | 35 |
| Two cases of spondylothoracic dysostosis (Jarcho Levin syndrome) in Chinese population | Lai, CWS; Lau, EWL; Lo, IFM; Chiu, WK; Law, CW; Tong, TMF; Lam, STS | 2011 | 69 |
 | Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification | Chow, JFC; Yeung, WSB; Lau, EYL; Lam, STS; Tong, T; Ng, EHY; Ho, PC | 2009 | 403 |
| Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes | Chung, BHY; Lam, STS; Tong, TMF; Li, SYH; Lun, KS; Chan, DHC; Fok, SFS; Or, JSF; Smith, DK; Yang, W; Lau, YL | 2009 | 71 |
| Identification of 7 novel transforming growth factor2 receptor 2 mutations in Chinese patients with marfan syndrome | Chung, BHY; Li, YH; Lam, STS; Yang, W; Lun, KS; Lau, YL | 2008 | 131 |
| 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) (oral presentation) | Chung, BHY; Li, YH; Lam, STS; Yang, W; Lun, KS; Lau, YL | 2007 | 135 |
| 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, YL | 2007 | 118 |
| Identification of 7 novel TGFBR2 mutations in Chinese with marfan syndrome (MFS) and related phenotypes using DHPLC | Chung, BHY; Li, YH; Lam, STS; Yang, W; Lun, KS; Lau, YL | 2007 | 178 |
| 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, STS | 2006 | 143 |
| Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T>A and 79G>T in RMRP gene | Lam, ACF; Chan, DHC; Tong, TMF; Tang, MHY; Lo, SYF; Lo, IFM; Lam, STS | 2006 | 28 |
| Thanatophoric dysplasia variant, San Diego type in a Chinese fetus, caused by C746G missense mutation in FGFR3 gene | Lam, ACF; Tong, TMF; Tang, MHY; Lo, S; Lee, CP; Lau, E; Lam, STS | 2006 | 43 |
| Identification of 21 novel and 3 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypes | Lun, KS; Lam, STS; Tong, TMF; Chung, BHY; Li, YH; Chan, HC; Or, SF; Lau, YL | 2006 | 104 |
| Identification of 21 novel and 3 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypes | Chung, BHY; Lam, STS; Tong, TMF; Li, YH; Lun, KS; Chan, HC; Or, SF; Lau, YL | 2006 | 135 |
| Identification of 25 novel and 2 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypes | Chung, BHY; Lam, STS; Tong, TMF; Li, YH; Lun, KS; Chan, HC; Or, SF; Lau, YL | 2006 | 110 |
| Diagnostic difficulties in Sanfilippo disease | Chan, DKH; Lam, CW; Lam, STS | 2006 | 57 |
| A case of perinatal lethal form of hypophosphatasia; and review of literatures | Lam, ACF; Lam, CW; Tang, MHY; Chu, JWY; Lam, STS | 2006 | 69 |
| Normal cord blood thyroid-stimulating hormone in a child with resistance to thyroid hormone | Chan, AOK; Lam, CW; Lo, IFM; Lam, STS; Shek, CC; Tiu, SC; Tong, SF | 2005 | 108 |
| Spontaneous growth in Chinese patients with Turner's syndrome and influence of karyotype | Low, LCK; Sham, C; Kwan, E; Karlberg, J; Tang, G; Cheung, PT; Pang, H; Tse, W; But, B; Yu, CM; Lam, STS | 1997 | 108 |
| Fragile X positivity in Chinese children with autistic spectrum disorder | Wong, VCN; Lam, STS | 1992 | 89 |
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