Results 1 to 20 of 56
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TypeTitleAuthor(s)YearViews
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 spectrometryWu, JL; Leung, KF; Tong, SF; Lam, CW2012123
 
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, ZQ201199
 
Fatal viral infection-associated encephalopathy in two Chinese boys: A genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variantsMak, 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, AYW2011203
 
Molecular basis of von Hippel-Lindau syndrome in Chinese patientsSiu, 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, AYW2011302
 
Persistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calciumsensing receptor geneWong, WC; Lam, CW; Tong, SF; Tong, CT2011202
 
Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumorsSiu, WK; Law, CY; Lam, CW; Mak, CM; Wong, GWK; Ho, AYY; Ho, KY; Loo, KT; Chiu, SC; Chow, LTC; Tong, SF; Chan, AYW2011136
 
Maternally inherited leigh syndrome: An unusual cause of infantile apneaChau, CSK; Kwok, KL; Ng, DK; Lam, CW; Tong, SF; Chan, YW; Siu, WK; Yuen, YP2010210
 
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong ChineseMak, 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, YW2010240
 
Microarrays for personalized genomic medicineLam, CW; Lau, KC; Tong, SF2010113
 
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, YW2008155
 
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneityMak, 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, YW2008227
 
A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndromeLam, CW; Kong, APS; Tsui, TKC; Ozaki, R; Chan, HM; Tong, SF; Siu, TS; Tam, S; Chan, JCN2008106
 
Pantothenate kinase-associated neurodegeneration in two Chinese children: Identification of a novel PANK2 gene mutationChan, KY; Lam, CW; Lee, LP; Tong, SF; Yuen, YP200878
 
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 consanguinityLam, CW; Tong, SF; Wong, K; Luo, YF; Tang, HY; Ha, SY; Chan, MHM200786
 
A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiencyMa, RCW; Lam, CW; Chan, WB; So, WY; Tong, SF; Chow, CC; Cockram, CS200797
 
DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delayYuen, YP; Lam, CW; Chan, KY; Lai, CK; Tong, SF; Chan, YW200768
 
DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: A chance of 1 in 7.6 trillionLam, CW; Yan, MSC; Li, CK; Lau, KC; Tong, SF; Tang, HY200784
 
Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuriaYuen, YP; Lam, CW; Lai, CK; Tong, SF; Li, PS; Tam, S; Kwan, EYW; Chan, SY; Tsang, WK; Chan, KY; Mak, WL; Cheng, CW; Chan, YW2006106
 
Galactorrhea-A strong clinical clue towards the diagnosis of neurotransmitter diseaseYeung, WL; Lam, CW; Hui, J; Tong, SF; Wu, SP200680
 
Identification of RASSF1A modulated genes in nasopharyngeal carcinomaChow, LSN; Lam, CW; Chan, SYY; Tsao, SW; To, KF; Tong, SF; Hung, WK; Dammann, R; Huang, DP; Lo, KW2006114
 
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