Results 1 to 13 of 13
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TypeTitleAuthor(s)YearViews
Two cases of spondylothoracic dysostosis (Jarcho Levin syndrome) in Chinese population
Proceedings/Conference:
Asia Pacific Conference on Human Genetics, 2010
Lai, CWS; Lau, EWL; Lo, IFM; Chiu, WK; Law, CW; Tong, TMF; Lam, STS201199
 
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
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Chung, BHY; Lam, STS; Tong, TMF; Li, SYH; Lun, KS; Chan, DHC; Fok, SFS; Or, JSF; Smith, DK; Yang, W; Lau, YL2009165
 
Identification of 21 novel and 3 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypes (oral presentation)
Proceedings/Conference:
25th International Congress of Pediatrics, Athens, Greece, 25-30 August 2007
Chung, BHY; Lam, STS; Tong, TMF; Li, YH; Lun, KS; Chan, HC; Or, SF; Lau, YL2007135
 
Identification of 21 novel and 3 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypes
Proceedings/Conference:
2nd Congress of Asian Society for Pediatric Research (ASPR), Yokohama, Japan, 8-10 December 2006
Chung, BHY; Lam, STS; Tong, TMF; Li, YH; Lun, KS; Chan, HC; Or, SF; Lau, YL2006150
 
Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T>A and 79G>T in RMRP gene
Journal:
Prenatal Diagnosis
Publisher:
John Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252
Lam, ACF; Chan, DHC; Tong, TMF; Tang, MHY; Lo, SYF; Lo, IFM; Lam, STS200675
 
Identification of 25 novel and 2 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypes
Proceedings/Conference:
Joint Annual Scientific Meeting, The Hong Kong Paediatric Society and Hong Kong Paediatric Nurses Association, Queen Elizabeth Hospital, 7 January 2006
Chung, BHY; Lam, STS; Tong, TMF; Li, YH; Lun, KS; Chan, HC; Or, SF; Lau, YL2006114
 
Identification of 21 novel and 3 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypes
Proceedings/Conference:
Joint 6th Human Genome Organization (HUGO) Pacific Meeting & 7th Asia-Pacific Human Genetics Conference (HUGO-AP 2006), Taipei, Taiwan, 6-10 March 2006
Lun, KS; Lam, STS; Tong, TMF; Chung, BHY; Li, YH; Chan, HC; Or, SF; Lau, YL2006118
 
Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA)
Journal:
Clinical Biochemistry
Publisher:
Elsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/clinbiochem
Lai, KKS; Lo, IFM; Tong, TMF; Cheng, LYL; Lam, STS2006169
 
Thanatophoric dysplasia variant, San Diego type in a Chinese fetus, caused by C746G missense mutation in FGFR3 gene
Journal:
Hong Kong Journal of Paediatrics
Publisher:
Medcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp
Lam, ACF; Tong, TMF; Tang, MHY; Lo, S; Lee, CP; Lau, E; Lam, STS200681
 
Molecular defects in haemophilia B: Detection by direct restriction enzyme analysis
Journal:
British Journal of Haematology
Publisher:
Blackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJH
Chan, V; Yip, B; Tong, TMF; Chan, TPT; Lau, K; Yam, I; Chan, TK199179
 
Multiple Xba I polymorphisms in Haemophilia A (I: Reply)
Journal:
British Journal of Haematology
Publisher:
Blackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJH
Chan, V; Tong, TMF; Chan, TK199053
 
A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A
Journal:
Blood
Publisher:
American Society of Hematology. The Journal's web site is located at http://bloodjournal.hematologylibrary.org/
Chan, V; Chan, TK; Tong, TMF; Todd, D198966
 
Multiple XbaI polymorphisms for carrier detection and prenatal diagnosis of haemophilia A
Journal:
British Journal of Haematology
Publisher:
Blackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJH
Chan, V; Tong, TMF; Chan, TPT; Tang, M; Wan, CW; Chan, FY; Chu, YC; Chan, TK198992
 
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