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Showing results 22 to 41 of 58 < previous next >

Title	Author(s)	Issue Date	Views
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	168
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	166
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	179
Microarrays for personalized genomic medicine Journal:Advances in Clinical Chemistry	Lam, CW Lau, KC Tong, SF	2010	118
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	191
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	257
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	111
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	175
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	172
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	184
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	139
Novel donor splice site mutation of ABCG5 gene in sitosterolemia Journal:Molecular Genetics and Metabolism	Lam, CW Cheng, AWF Tong, SF Chan, YW	2002	173
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	135
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	111
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	166
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	170
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	217
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	98
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	149
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	181

Showing results 22 to 41 of 58 < previous next >