Browsing by Author Chan, AOK

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Showing results 13 to 22 of 22 < previous 
TitleAuthor(s)Issue DateViews
 
Isolated 17,20-lyase deficiency in a Hong Kong Chinese patient with a novel nonsense mutation in the CYB5A gene
Proceeding/Conference:Asia-Pacific Conference on Human Genetics, APCHG 2010
Chan, AOKYeung, TWYLi, RHWNg, EHYHo, PCLai, PSShek, CC
2010
25
 
Megaconial Congenital Muscular Dystrophy: Same Novel Homozygous Mutation In Chkb Gene In Two Unrelated Chinese Patients
Journal:Neuromuscular Disorders
Chan, HSSHo, RSLKhong, PLChung, BHYTSANG, MHYYU, MHCYeung, MCYChan, AOKFung, CW
2020
46
 
Normal cord blood thyroid-stimulating hormone in a child with resistance to thyroid hormone
Journal:Neuroembryology and Aging
Chan, AOKLam, CWLo, IFMLam, STSShek, CCTiu, SCTong, SF
2005
139
 
Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia
Journal:Clinica Chimica Acta
Lam, CWLee, KFChan, AOKPoon, PMKLaw, TYTong, SF
2005
217
 
A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI
Journal:Chinese Medical Journal
Lam, CWChan, AOKLai, CKChan, WHChan, YWShek, CCTong, SF
2004
126
 
Paraganglioma of the Vagina Associated With Germline SDHB Mutation: Report of a Case With Review of the Literature
Journal:International Journal of Gynecological Pathology
Wong, RWCLiu, APYChoi, CKMChan, AOK
2020
17
 
Resistance to thyroid hormone in a Chinese family with R429Q mutation in the thyroid hormone receptor beta gene
Journal:Hong Kong Medical Journal
Kong, APSLam, CWChan, AOKYiu, SFTiu, SC
2005
105
 
Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation
Journal:Child Neurology Open
Chiu, ATGChan, HSSWu, SPTing, SHChung, BHYChan, AOKWong, CNV
2018
45
 
Succinate Dehydrogenase Subunit B (SDHB) Gene Mutations In Paediatric Metastatic Paraganglioma: A Report Of Two Cases
Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)
Liu, APYChang, KOAu Yeung, RKHChan, AOKChan, GCF
2015
82
 
Vaginal paraganglioma as a manifestation of germline SDHB mutation: Case report with genetic findings and review of the literature
Proceeding/Conference:International Congress of Gynecologic and Obstetric Pathology 2016
Wong, RWCLiu, APYWan, EHYChan, AOK
2016
37
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