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Title	Author(s)	Issue Date	Views
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
A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI Journal:Chinese Medical Journal	Lam, CW Chan, AOK Lai, CK Chan, WH Chan, YW Shek, CC Tong, SF	2004	126
Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity Journal:Clinica Chimica Acta	OnKei Chan, A Lam, CW Tong, SF Man Tung, C Yung, K Chan, YW Au, KM Yuen, YP Hung, CT Ng, KP Shek, CC	2005	125
Novel mutations in the PATCHED gene in basal cell nevus syndrome Journal:Molecular Genetics and Metabolism	Lam, CW Leung, CY Lee, KC Xie, J Lo, FM Au, TS Tong, SF Poon, MK Chan, LY Luk, NM	2002	187
Novel mutations of the AGXT gene causing primary hyperoxaluria type 1 Journal:Journal of Nephrology	Yuen, YP Lai, CK Tong, GMW Wong, PN Wong, FKM Mak, SK Lo, KY Wong, AKM Tong, SF Chan, YW Lam, CW	2004	126
Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors Journal:Familial Cancer	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	212
Novel single nucleotide polymorphisms (3203A>G and 3204C>T) in the 3' end of the mitochondrial 16S rRNA gene. Journal:Human mutation	Yang, T Lam, CW Tsang, MW Tong, SF Chan, LY Kam, GY Poon, PM Wu, XQ Pang, CP	2000	139
Novel splicing mutation of the PPOX gene (IVS10+1G→A) detected by denaturing high-performance liquid chromatography Journal:Clinica Chimica Acta	Lam, CW Hui, KN Poon, PMK Luk, NM Yuen, YP Tong, SF Lai, CK Chan, YW Lo, KK	2001	176
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 Journal:Rapid Communications in Mass Spectrometry	Wu, JL Leung, KF Tong, SF Lam, CW	2012	129
Pantothenate kinase-associated neurodegeneration in two Chinese children: Identification of a novel PANK2 gene mutation Journal:Hong Kong Medical Journal	Chan, KY Lam, CW Lee, LP Tong, SF Yuen, YP	2008	90
A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2 Journal:Journal of Hepatology	Lam, CW Cheung, KM Tsui, MS Yan, MSC Lee, CY Tong, SF	2006	168

Showing results 32 to 51 of 58 < previous next >