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Showing results 36 to 55 of 58 < previous next >

Title	Author(s)	Issue Date	Views
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	178
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	178
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	231
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	103
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	189
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	141
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	135
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	198
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	141
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	235
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	44
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	181
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	138
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	95
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	181
Persistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calciumsensing receptor gene Journal:Hong Kong Medical Journal	Wong, WC Lam, CW Tong, SF Tong, CT	2011	172
Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography Journal:Prenatal Diagnosis	Lam, CW Sin, SY Lau, ET Lam, YY Poon, P Tong, SF	2000
Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b Journal:Clinica Chimica Acta	Lam, CW Orrico, A Yan, MSC Law, TY Galli, L Benedetti, A Tong, SF Sorrentino, V	2006
Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome. Journal:Journal of medical genetics	Lam, CW Yeung, WL Ko, CH Poon, PM Tong, SF Chan, KY Lo, IF Chan, LY Hui, J Wong, V Pang, CP Lo, YM Fok, TF	2000	169

Showing results 36 to 55 of 58 < previous next >