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Title	Author(s)	Issue Date
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
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
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
Microarrays for personalized genomic medicine Journal:Advances in Clinical Chemistry	Lam, CW Lau, KC Tong, SF	2010
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
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
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
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
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
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
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
Novel donor splice site mutation of ABCG5 gene in sitosterolemia Journal:Molecular Genetics and Metabolism	Lam, CW Cheng, AWF Tong, SF Chan, YW	2002
A novel DraI polymorphism in the 3' untranslated region of human glucose-6-phosphatase gene: Useful for carrier detection and prenatal diagnosis of glycogen storage disease type 1a Journal:Clinical Genetics	Lam, CW Liang, MH Pang, CP Tong, SF Wong, LJC	1998
A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b. Journal:Human mutation	Lam, CW Chan, KY Tong, SF Chan, BY Chan, YT Chan, YW	2000
Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b Journal:Molecular Genetics and Metabolism	Yuen, YP Cheng, WF Tong, SF Chan, YT Chan, YW Lam, CW	2002
Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia [2] Journal:Clinica Chimica Acta	Poon, WT Au, KM Chan, YW Chan, KY Chow, CB Tong, SF Lam, CW	2006
Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia Journal:Clinica Chimica Acta	Lam, CW Lee, KF Chan, AOK Poon, PMK Law, TY Tong, SF	2005
Novel mutation and polymorphisms of the HMBS gene detected by denaturing HPLC Journal:Clinical Chemistry	Lam, CW Poon, PMK Tong, SF Lo, AWI Lai, CK Choi, KL Tiu, SC Chan, YW Shek, CC	2001
Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor Journal:American Journal of Kidney Diseases	Lam, CW Yuen, YP Lai, CK Tong, SF Lau, LK Tong, KL Chan, YW	2001
A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndrome Journal:Clinica Chimica Acta	Lam, CW Kong, APS Tsui, TKC Ozaki, R Chan, HM Tong, SF Siu, TS Tam, S Chan, JCN	2008

Showing results 22 to 41 of 58 < previous next >