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TypeTitleAuthor(s)YearViews
Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: Implications in transitional care
Journal:
European Journal of Medical Genetics [Epub ahead of print]
Publisher:
Elsevier.
Liu, APY; Chow, PC; Lee, PPW; Mok, TKG; Tang, WF; Lau, ETK; Lam, STS; Chan, YK; Kan, SYA; Chau, AKT; Cheung, YF; Lau, YL; Chung, BHY201436
 
Identifying genetic mutations in patients with RASopathies using a new generation sequencing diagnostic pipeline in Hong Kong
Proceedings/Conference:
Annual Scientific Meeting, Hong Kong College of Paediatricians, HK, 7 December 2013
Lo, 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, BHY201338
 
A second report of p.Pro986Leu variant in COL2A1 - phenotypic overlap with SEDC and other forms of type II collagenopathies
Journal:
American Journal of Medical Genetics (Part A)
Chung, BHY; Luk, HM; Lo, IFM; Lam, STS; Li, RHW201389
 
22q11.2 Deletion Syndrome in Adult Chinese Patients with Conotruncal Anomalies: Dysmorphisms, Clinical Features and Underdiagnosis
Proceedings/Conference:
Hong Kong Journal of Paediatrics (New series)
Publisher:
Medcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp
Liu, APY; Chow, PC; Lee, PPW; Mok, TKG; Tang, WF; Lau, ETK; Lam, STS; Chan, KY; Kan, SYA; Chau, AKT; Cheung, YF; Lau, YL; Chung, BHY201378
 
Two Chinese Patients with Loeys-Dietz Syndrome: A Connecitve Tissue Disorder with Marfan-like Features and Vasculopathy
Journal:
Hong Kong Journal of Paediatrics (new series)
Ho, CCA; Chan, SY; Chow, PC; Wong, KT; Lun, KS; Lo, IFM; Lam, STS; Chau, AKT; Lau, YL; Chung, BHY201288
 
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, YL2009156
 
Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification
Journal:
Fertility and Sterility
Publisher:
Elsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/fertnstert
Chow, JFC; Yeung, WSB; Lau, EYL; Lam, STS; Tong, T; Ng, EHY; Ho, PC2009410
 
Identification of 7 novel transforming growth factor2 receptor 2 mutations in Chinese patients with marfan syndrome
Proceedings/Conference:
Pediatrics
Publisher:
Pediatrics.
Chung, BHY; Li, YH; Lam, STS; Yang, W; Lun, KS; Lau, YL2008136
 
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, YL2007134
 
Identification of 7 novel TGFBR2 mutations in Chinese with marfan syndrome (MFS) and related phenotypes using DHPLC
Proceedings/Conference:
The 3rd Congress of Asian Society for Pediatric Research, Tokyo, Japan, 6-9 October 2007
Chung, BHY; Li, YH; Lam, STS; Yang, W; Lun, KS; Lau, YL2007193
 
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)
Proceedings/Conference:
25th International Congress of Pediatrics, Athens, Greece, 25-30 August 2007
Chung, BHY; Li, YH; Lam, STS; Yang, W; Lun, KS; Lau, YL2007144
 
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, STS200674
 
Diagnostic difficulties in Sanfilippo disease
Journal:
Hong Kong Journal of Paediatrics
Publisher:
Medcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp
Chan, DKH; Lam, CW; Lam, STS200674
 
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, YL2006112
 
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, STS2006165
 
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, STS200680
 
A case of perinatal lethal form of hypophosphatasia; and review of literatures
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; Lam, CW; Tang, MHY; Chu, JWY; Lam, STS2006111
 
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