Results 1 to 16 of 16
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TypeTitleAuthor(s)YearViews
Characteristic of patients with Duchenne Muscular Dystrophy and Becker Muscular Dystrophy in Hong Kong
Journal:
Journal of Paediatric Neurology
Chan, SHS; Lo, IFM; Cherk, S; Cheng, WW; Fung, ELW; Yeung, WL; Ngan, M; Lee, WC; Kwong, L; Wong, SN; Ma, CK; Tai, SM; Ng, SF; Wu, SP; Wong, VCN201422
 
Spread of X Inactivation on Chromosome 15 is Associated with a More Severe Phenotype in a Girl with an Unbalanced t(X;15) Translocation
Journal:
American Journal of Medical Genetics (Part A)
YEUNG, KS; Chee, WYY; Luk, HM; Kan, SYA; Tang, MHY; Lau, ETK; Shuen, AY; Lo, IFM; Chan, YK; Chung, BHY201429
 
Characteristic of patients with Duchenne Muscular Dystrophy and Becker Muscular Dystrophy in Hong Kong
Journal:
Paediatric Neurology
Chan, SHS; Lo, IFM; Cherek, S; Cheng, WW; Fung, EI; Yeung, WL; Ngan, M; Lee, WC; Kwong, L; Wong, SN; Ma, CK; Tai, SM; Ng, SF; Wu, SP; Wong, VCN201453
 
A prenatal case of split-hand malformation associated with 17p13.3 triplication – A dilemma in genetic counseling
Journal:
European Journal of Medical Genetics [in-press]
Publisher:
Elsevier.
Luk, HM; Wong, VCH; Lo, IFM; Chan, YK; Lau, ETK; Kan, SYA; Tang, MHY; Tang, WF; She, WMK; Chu, WY; Sin, WK; Chung, BHY201458
 
NSD1+/- DNA methylation (DNAm) signature: A novel functional diagnostic tool for Sotos syndrome
Proceedings/Conference:
64th ASHG Annual Meeting 2014
Publisher:
American Society of Human Genetics.
Chonufani, S; Cytrynbaum, C; Chung, BHY; Turinsky, AL; Grafodatskaya, D; Chen, YA; Luk, HM; Lo, IFM; Lam, STS; Stavropoulos, DJ; Gibson, B; Reardon, M; Brudno, M; Mendoza-Londono, R; Chitayat, D; Weksberg, R201424
 
Contribution of gain-of-function mutations in R1T1 to the pathogenesis of Noonan syndrome - A report of 3 new Chinese patients in Hong Kong (1st runner-up prize of best oral presentation)
Proceedings/Conference:
50th Anniversary Scientific Meeting, Dept of Paed & Adol Med, HKU, 29-30 November 2014
LEUNG, KC; Ma, CH; Gao, W; Chu, WY; Wong, WL; Jin, D; Lo, IFM; Luk, HM; Chung, BHY20141
 
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, BHY201360
 
Evidence of Spread of X Chromosome Inactivation On Chromosome 15 in a Girl With an Unbalanced t(X;15) Translocation
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
Yeung, KS; Chee, WYY; Luk, HM; Tang, MHY; Lau, ETK; Shuen, YA; Lo, IFM; Chan, YK; Chung, BHY201366
 
Territory wide study of patients with dystrophinopathy in Hong Kong
Proceedings/Conference:
Neuromuscular Disorders
Publisher:
Elsevier Ltd. The Journal's web site is located at http://www.elsevier.com/locate/nmd
Chan, SHS; Lo, IFM; Cherk, S; Cheng, WWS; Fung, E; Yeung, WL; Lee, WC; Wong, S; Ma, CKL; Tai, SM; Yau, MM; Ng, G; Wu, SP; Wong, VCN201360
 
Massive parallel sequencing for the genetic diagnosis of rasopathies: a study of 58 Chinese patients in Hong Kong
Proceedings/Conference:
37th Annual Scientific Meeting of the Canadian College of Medical Geneticists, CCMG 2013
Lo, IFM; Leung, KC; Luk, MHM; Wong, WL; Tang, LYF; Chu, YWY; Kan, ASY; Tang, MHY; Lam, STS; Yang, W; Chan, YK; Chung, BHY201323
 
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, RHW2013122
 
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, BHY2012136
 
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, STS2011130
 
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, STS2006198
 
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, STS2006112
 
Normal cord blood thyroid-stimulating hormone in a child with resistance to thyroid hormone
Journal:
Neuroembryology and Aging
Publisher:
S Karger AG. The Journal's web site is located at http://www.karger.com/nba
Chan, AOK; Lam, CW; Lo, IFM; Lam, STS; Shek, CC; Tiu, SC; Tong, SF2005154
 
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