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	Title	Author(s)	Issue Date
	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
	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
	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 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
	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
	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
	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
	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
	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, APY Chang, KO Au Yeung, RKH Chan, AOK Chan, GCF	2015
	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, RWC Liu, APY Wan, EHY Chan, AOK	2016

Showing results 1 to 10 of 10