Results 1 to 9 of 9
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TypeTitleAuthor(s)YearViews
A prenatal case of split-hand malformation associated with 17p13.3 triplication – A dilemma in genetic counselingLuk, HM; Wong, VCH; Lo, IFM; Chan, YK; Lau, ETK; Kan, SYA; Tang, MHY; Tang, WF; She, WMK; Chu, WY; Sin, WK; Chung, BHY201421
 
Evidence of spread of X chromosome inactivation on chromosome 15 in a girl with an unbalanced t(X;15) transolcationYEUNG, KS; Chee, WYY; Luk, HM; Tang, MHY; Lau, ETK; Shuen, YA; Lo, IFM; Chan, YK; Chung, BHY201328
 
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
 
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
 
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
 
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
 
Normal cord blood thyroid-stimulating hormone in a child with resistance to thyroid hormoneChan, AOK; Lam, CW; Lo, IFM; Lam, STS; Shek, CC; Tiu, SC; Tong, SF200599
 
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