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TypeTitleAuthor(s)YearViews
22q11.2 deletion syndrome in adult Chinese patient with conotruncal anomalies: Dysmorphisms, clinical features and under-diagnosisLiu, APY; Chow, PC; Lee, PPW; Mok, TKG; Tang, WF; Lau, ETK; Lam, STS; Chan, KY; Kan, SYA; Chau, AKT; Cheung, YF; Lau, YL; Chung, BHY201335
 
Identifying genetic mutations in patients with RASopathies using a new generation sequencing diagnostic pipeline in Hong KongLo, 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, BHY201314
 
22q11.2 deletion syndrome in adult Chinese patients with conotruncal anomalies: dysmorphisms, clinical features and under-diagnosisLiu, APY; Chow, PC; Lee, PPW; Mok, TKG; Tang, WF; Lau, ETK; Lam, STS; Chan, YK; Kan, SYA; Chau, AKT; Cheung, YF; Lau, YL; Chung, BHY201333
 
A second report of p.Pro986Leu variant in COL2A1 - phenotypic overlap with SEDC and other forms of type II collagenopathiesChung, BHY; Luk, HM; Lo, IFM; Lam, STS; Li, RHW201359
 
Two Chinese Patients with Loeys-Dietz Syndrome: A Connecitve Tissue Disorder with Marfan-like Features and VasculopathyHo, CCA; Chan, SY; Chow, PC; Wong, KT; Lun, KS; Lo, IFM; Lam, STS; Chau, AKT; Lau, YL; Chung, BHY201256
 
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, YL2009127
 
Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplificationChow, JFC; Yeung, WSB; Lau, EYL; Lam, STS; Tong, T; Ng, EHY; Ho, PC2009375
 
Identification of 7 novel transforming growth factor2 receptor 2 mutations in Chinese patients with marfan syndromeChung, BHY; Li, YH; Lam, STS; Yang, W; Lun, KS; Lau, YL2008117
 
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 7 novel TGFBR2 mutations in Chinese with marfan syndrome (MFS) and related phenotypes using DHPLCChung, BHY; Li, YH; Lam, STS; Yang, W; Lun, KS; Lau, YL2007171
 
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, YL2007122
 
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
 
Diagnostic difficulties in Sanfilippo diseaseChan, DKH; Lam, CW; Lam, STS200651
 
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, STS200665
 
A case of perinatal lethal form of hypophosphatasia; and review of literaturesLam, ACF; Lam, CW; Tang, MHY; Chu, JWY; Lam, STS200677
 
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