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Title	Author(s)	Issue Date	Views
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	102
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	81
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	74
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	57
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	66
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	80
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
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? Journal:Laryngoscope	Zha, Y Chen, XM Lam, CW Lee, SC Tong, SF Gao, ZQ	2011	74
Juvenile-onset glycogen storage disease type II with novel mutations in acid α-glucosidase gene Journal:Neurology	Lam, CW Yuen, YP Chan, KY Tong, SF Lai, CK Chow, TC Lee, KC Chan, YW Martiniuk, F	2003	73
Maternally inherited leigh syndrome: An unusual cause of infantile apnea Journal:Sleep and Breathing	Chau, CSK Kwok, KL Ng, DK Lam, CW Tong, SF Chan, YW Siu, WK Yuen, YP	2010	903
MECP2 mutation in male patients with non-specific X-linked mental retardation Journal:FEBS Letters	Orrico, A Lam, CW Galli, L Dotti, MT Hayek, G Tong, SF Poon, PMK Zappella, M Federico, A Sorrentino, V	2000	131
Microarrays for personalized genomic medicine Journal:Advances in Clinical Chemistry	Lam, CW Lau, KC Tong, SF	2010	58
Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome Journal:Clinica Chimica Acta	Lam, CW Yuen, YP Cheng, WF Chan, YW Tong, SF	2006	75
Molecular basis of von Hippel-Lindau syndrome in Chinese patients Journal:Chinese Medical Journal	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	168
Molecular genetic analysis of a Chinese patient with Fabry disease Journal:Chinese Medical Journal	Lam, CW Mak, YT Lo, YMD Tong, SF To, KF Lai, FMM	2000	48
Mutation of proline 409 to arginine in the meander region of cytochrome P450c17 causes severe 17α-hydroxylase deficiency Journal:Molecular Genetics and Metabolism	Lam, CW Arlt, W Chan, CK Honour, JW Lin, CJ Tong, SF Choy, KW Miller, WL	2001	73
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity Journal:Journal of Human Genetics	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	170
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) Journal:Journal of Human Genetics	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	97
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 donor splice site mutation of ABCG5 gene in sitosterolemia Journal:Molecular Genetics and Metabolism	Lam, CW Cheng, AWF Tong, SF Chan, YW	2002	51

Showing results 14 to 33 of 58 < previous next >