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Title	Author(s)	Issue Date	Views
1DNA-based subtyping of glycogen storage disease type III: Mutation and haplotype analysis of the AGL gene in Chinese Journal:Molecular Genetics and Metabolism	Lam, CW Lee, ATC Lam, YY Wong, TW Mak, TWL Fung, WC Chan, KC Ho, CS Tong, SF	2004	231
Atypical presentation of dopa-responsive dystonia: Generalized hypotonia and proximal weakness Journal:Neurology	Kong, CK Ko, CH Tong, SF Lam, CW	2001	156
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese Journal:Molecular Genetics and Metabolism	Mak, CM Lam, CW Siu, TS Chan, KY Siu, WK Yeung, WL Hui, J Wong, VCN Low, LCK Ko, CH Fung, CW Chen, SP Yuen, YP Lee, HC Yau, E Chan, B Tong, SF Tam, S Chan, YW	2010	227
A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency Journal:Hong Kong Medical Journal	Ma, RCW Lam, CW Chan, WB So, WY Tong, SF Chow, CC Cockram, CS	2007	112
Definition of the correct sequence in the donor splice site of intron 2 in the human glucose 6-phosphate translocase gene Journal:FEBS Letters	Lam, CW Chan, BY Tong, SF	1999	157
DNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography Journal:Molecular Genetics and Metabolism	Lam, CW Li, CK Lai, CK Tong, SF Chan, KY Ng, GSF Yuen, YP Cheng, AWF Chan, YW	2002	195
DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: Standardization of molecular investigations of genetic diseases due to consanguinity Journal:Journal of Human Genetics	Lam, CW Tong, SF Wong, K Luo, YF Tang, HY Ha, SY Chan, MHM	2007	179
DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay Journal:Clinica Chimica Acta	Yuen, YP Lam, CW Chan, KY Lai, CK Tong, SF Chan, YW	2007	179
DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: A chance of 1 in 7.6 trillion Journal:Clinica Chimica Acta	Lam, CW Yan, MSC Li, CK Lau, KC Tong, SF Tang, HY	2007	186
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	110
DNA-based diagnosis of xeroderma pigmentosum group C by whole-genome scan using single-nucleotide polymorphism microarray Journal:Journal of Investigative Dermatology	Lam, CW Cheung, KKT Luk, NM Chan, SW Lo, KK Tong, SF	2005	185
Ethnic-specific splicing mutation of the carnitine-acylcarnitine translocase gene in a Chinese neonate presenting with sudden unexpected death Journal:Chinese Medical Journal	Lam, CW Lai, CK Chow, CB Tong, SF Yuen, YP Mak, YF Chan, YW	2003	125
Evaluation of a new handheld biosensor for point-of-care testing of whole blood beta-hydroxybutyrate concentration. Journal:Hong Kong medical journal = Xianggang yi xue za zhi / Hong Kong Academy of Medicine	Chiu, RW Ho, CS Tong, SF Ng, KF Lam, CW	2002	89
Fatal viral infection-associated encephalopathy in two Chinese boys: A genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants Journal:Journal of Human Genetics	Mak, CM Lam, CW Fong, NC Siu, WK Lee, HCH Siu, TS Lai, CK Law, CY Tong, SF Poon, WT Lam, DSY Ng, HL Yuen, YP Tam, S Que, TL Kwong, NS Chan, AYW	2011	184
A frequent activated smoothened mutation in sporadic basal cell carcinomas Journal:Oncogene	Lam, CW Xie, J To, KF Ng, HK Lee, KC Yuen, NWF Lim, PL Chan, LYS Tong, SF Mccormick, F	1999	201
Galactorrhea-A strong clinical clue towards the diagnosis of neurotransmitter disease Journal:Brain and Development	Yeung, WL Lam, CW Hui, J Tong, SF Wu, SP	2006	202
Genome-wide detection of allelic imbalance in renal cell carcinoma using high-density single-nucleotide polymorphism microarrays Journal:Clinical Biochemistry	Lam, CW To, KF Tong, SF	2006	168
Glucose-6-phosphatase gene (727G→T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a Journal:Clinical Genetics	Lam, CW But, WM Shek, CC Tong, SF Chan, YS Choy, KW Tse, WY Pang, CP Hjelm, NM	1998	163
Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria Journal:Kidney International	Yuen, YP Lam, CW Lai, CK Tong, SF Li, PS Tam, S Kwan, EYW Chan, SY Tsang, WK Chan, KY Mak, WL Cheng, CW Chan, YW	2006	218
Identification of RASSF1A modulated genes in nasopharyngeal carcinoma Journal:Oncogene	Chow, LSN Lam, CW Chan, SYY Tsao, SW To, KF Tong, SF Hung, WK Dammann, R Huang, DP Lo, KW	2006	183

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