| Title | Author(s) | Year | View Count |
 | Organochlorine isotopic pattern-enhanced detection and quantification of triclosan and its metabolites in human serum by ultra-high-performance liquid chromatography/quadrupole time-of-flight/mass spectrometry | Wu, JL; Leung, KF; Tong, SF; Lam, CW | 2012 | 90 |
| Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors | Siu, WK; Law, CY; Lam, CW; Mak, CM; Wong, GWK; Ho, AYY; Ho, KY; Loo, KT; Chiu, SC; Chow, LTC; Tong, SF; Chan, AYW | 2011 | 96 |
| Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients? | Zha, Y; Chen, XM; Lam, CW; Lee, SC; Tong, SF; Gao, ZQ | 2011 | 89 |
 | Persistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calciumsensing receptor gene | Wong, WC; Lam, CW; Tong, SF; Tong, CT | 2011 | 213 |
| Molecular basis of von Hippel-Lindau syndrome in Chinese patients | Siu, WK; Ma, RCW; Lam, CW; Mak, CM; Yuen, YP; Lo, FMI; Chan, KW; Lam, SF; Ling, SC; Tong, SF; So, WY; Chow, CC; Tang, MHY; Tam, WH; Chan, AYW | 2011 | 276 |
| Fatal viral infection-associated encephalopathy in two Chinese boys: A genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants | 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 | 154 |
| Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese | 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 | 235 |
| Maternally inherited leigh syndrome: An unusual cause of infantile apnea | Chau, CSK; Kwok, KL; Ng, DK; Lam, CW; Tong, SF; Chan, YW; Siu, WK; Yuen, YP | 2010 | 201 |
| Microarrays for personalized genomic medicine | Lam, CW; Lau, KC; Tong, SF | 2010 | 111 |
| Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity | Mak, CM; Lam, CW; Tam, S; Lai, CL; Chan, LY; Fan, ST; Lau, YL; Lai, JY; Yuen, P; Hui, J; Fu, CC; Wong, KS; Mak, WL; Tze, K; Tong, SF; Lau, A; Leung, N; Hui, A; Cheung, KM; Ko, CH; Chan, YK; Ma, O; Chau, TN; Chiu, A; Chan, YW | 2008 | 212 |
| Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity (Journal of Human Genetics (2008) 53 (55-63) DOI: 10.1007/s10038-007-0218-2) | Mak, CM; Lam, CW; Tam, S; Lai, CL; Chan, LY; Fan, ST; Lau, YL; Lai, ST; Yuen, P; Hui, J; Fu, CC; Wong, KS; Mak, WL; Tze, K; Tong, SF; Lau, A; Leung, N; Hui, A; Cheung, KM; Ko, CH; Chan, YK; Ma, O; Chau, TN; Chiu, A; Chan, YW | 2008 | 77 |
| Pantothenate kinase-associated neurodegeneration in two Chinese children: Identification of a novel PANK2 gene mutation | Chan, KY; Lam, CW; Lee, LP; Tong, SF; Yuen, YP | 2008 | 65 |
| A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndrome | Lam, CW; Kong, APS; Tsui, TKC; Ozaki, R; Chan, HM; Tong, SF; Siu, TS; Tam, S; Chan, JCN | 2008 | 77 |
| 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 | Lam, CW; Tong, SF; Wong, K; Luo, YF; Tang, HY; Ha, SY; Chan, MHM | 2007 | 68 |
| DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay | Yuen, YP; Lam, CW; Chan, KY; Lai, CK; Tong, SF; Chan, YW | 2007 | 57 |
| DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: A chance of 1 in 7.6 trillion | Lam, CW; Yan, MSC; Li, CK; Lau, KC; Tong, SF; Tang, HY | 2007 | 61 |
| A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency | Ma, RCW; Lam, CW; Chan, WB; So, WY; Tong, SF; Chow, CC; Cockram, CS | 2007 | 66 |
| Identification of RASSF1A modulated genes in nasopharyngeal carcinoma | Chow, LSN; Lam, CW; Chan, SYY; Tsao, SW; To, KF; Tong, SF; Hung, WK; Dammann, R; Huang, DP; Lo, KW | 2006 | 117 |
| A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2 | Lam, CW; Cheung, KM; Tsui, MS; Yan, MSC; Lee, CY; Tong, SF | 2006 | 70 |
| Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria | 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 | 64 |
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