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Title	Author(s)	Issue Date	Views
A common PRRT2 mutation in familial paroxysmal kinesigenic dyskinesia in Hong Kong: a case series of 16 patients Journal:Hong Kong Medical Journal	Law, CY Yeung, WL Cheung, YF Chan, HF Fung, E Hui, J Yung, IO Yuen, YP Chan, AOK Lam, CW	2016	2
A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality Journal:Neuromuscular Disorders	Chan, HSS Van Alfen, N Thuestad, IJ Ip, J Chan, AOK MAK, CCY Chung, BHY Aad, VERRIPS Erik-Jan, KAMSTEEG	2018	1
Chemical pathology case conference - Laboratory tests for diabetes mellitus Journal:Hong Kong Practitioner	Yuen, YP Mak, CM Chan, AOK Chan, MHM Chiu, RWK Lam, CW Mak, TWL Poon, WT Shek, ACC Tai, MHL Tam, S Chan, AYW	2007	127
Chemical pathology case conference - Serum tumour markers Journal:Hong Kong Practitioner	Poon, WT Yuen, YP Mak, CM Chan, AOK Chan, MHM Chiu, RWK Lam, CW Mak, TWL Shek, CC Tai, MHL Tam, S Chan, AYW	2010	98
The clinical significance of aldosterone synthase deficiency: report of a novel mutation in the CYP11B2 gene Journal:BMC Endocrine Disorders	Hui, YLE Yeung, MCW Cheung, PT Kwan, EYW Low, LCK Tan, KCB Lam, KSL Chan, AOK	2014	62
Collagen VI related myopathy: Clinical variability of triple helical domain mutations of COL6A mutations Proceeding/Conference:International Child Neurology Congress. Mumbai, India. 2018	Chan, HSS Kwong, KY Luk, HM Lo, IFM Fung, STH Tsang, HYM Chung, BHY Chan, AOK	2019
Congenital adrenal hyperplasia presenting as a large adrenal incidentaloma in an elderly man Journal:ANZ Journal of Surgery	Hui, YLE Lee, ACH Lang, HHB Chan, AOK Lam, KSL Tan, KCB	2017	68
Congenital Myopathies are a Group of Phenotypically and Genetically Heterogeneous Diseases Proceeding/Conference:Hong Kong Medical Journal	Chan, HSS Ho, RSL Chan, AOK Ip, JK Wong, S Ng, G Lee, H Cheng, SY Liu, KT Lee, CN Fung, ST Cherk, SW Chan, TS Lam, W Shek, WT Wong, CNV	2016	18
Congenital myopathies: characteristic and subtypes in Hong Kong Proceeding/Conference:Neuromuscular Disorders	Chan, HSS Ho, RSL Chan, AOK Ip, JJK Wong, S Ng, GSF Lee, HCH Cheng, Y Liu, KT Lee, CN Fung, STH Cherk, SWW Chan, TSK Lam, WMW Shek, WH Wong, VCN	2015	33
Delayed diagnosis of an old Chinese woman with familial Alzheimer's disease Journal:Journal of the Formosan Medical Association	Shea, YF Chu, LW Chan, AOK Kwan, SKJ	2015	53
DNA-based diagnosis of thyroid hormone resistance syndrome: A novel THRB mutation associated with mild resistance to thyroid hormone Journal:Clinica Chimica Acta	Lam, CW Chan, AOK Tong, SF Shek, CC Sau, CT	2005	54
Effect of plasmapheresis on serum levels of clobazam, levetiracetam and topiramate Journal:Epilepsy & Behavior Case Reports	To, HHM Chang, RSK Chan, AOK Chan, WLP	2017	17
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, AOK Yeung, TWY Li, RHW Ng, EHY Ho, PC Lai, PS Shek, CC	2010	39
Megaconial Congenital Muscular Dystrophy: Same Novel Homozygous Mutation In Chkb Gene In Two Unrelated Chinese Patients Journal:Neuromuscular Disorders	Chan, HSS Ho, RSL Khong, PL Chung, BHY TSANG, MHY YU, MHC Yeung, MCY Chan, AOK Fung, CW	2020	26
Normal cord blood thyroid-stimulating hormone in a child with resistance to thyroid hormone Journal:Neuroembryology and Aging	Chan, AOK Lam, CW Lo, IFM Lam, STS Shek, CC Tiu, SC Tong, SF	2005	147
Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia Journal:Clinica Chimica Acta	Lam, CW Lee, KF Chan, AOK Poon, PMK Law, TY Tong, SF	2005	96
A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI Journal:Chinese Medical Journal	Lam, CW Chan, AOK Lai, CK Chan, WH Chan, YW Shek, CC Tong, SF	2004	71
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, RWC Liu, APY Choi, CKM Chan, AOK	2020	10
Resistance to thyroid hormone in a Chinese family with R429Q mutation in the thyroid hormone receptor beta gene Journal:Hong Kong Medical Journal	Kong, APS Lam, CW Chan, AOK Yiu, SF Tiu, SC	2005	42
Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation Journal:Child Neurology Open	Chiu, ATG Chan, HSS Wu, SP Ting, SH Chung, BHY Chan, AOK Wong, CNV	2018

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