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Title	Author(s)	Issue Date	Views
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 mitochondrial 16S rRNA mutation, 3200T → C, associated with adult-onset type 2 diabetes Journal:Chinese Medical Journal	Yang, T ChingWan, L ManWo, T SuiFan, T Yw, KG Ys, CL Mk, PP Wu, X ChiPui, P	2002	128
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
A novel mutation at a ligand-binding site of hypoxanthine-guanine phosphoribosyl transferase, p.Y105C (HPRTHongKong), in a Chinese teenager with recurrent gouty arthritis Journal:Clinica Chimica Acta	Lam, CW Lee, KP Ng, KF Siu, TS Chan, HM Tam, S	2007
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 Arg306 of factor V gene in Hong Kong chinese Journal:Blood	Chan, WP Lee, CK Kwong, YL Lam, CK Liang, R	1998	122
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
Novel mutation, c.1234delA, in the DAX1 gene in congenital adrenal hypoplasia Journal:Clinica Chimica Acta	Lam, CW Cheng, AWF Poon, WT Yuen, YP Huen, KF	2006	168
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 myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient Journal:Clinica Chimica Acta	Cho, SY Siu, TS Ma, O Tam, S Lam, CW	2013
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 pandemic influenza A(H1N1) viruses are potently inhibited by DAS181, a sialidase fusion protein Journal:PLoS ONE	TrianaBaltzer, GB Gubareva, LV Nicholls, JM Pearce, MB Mishin, VP Belser, JA Chen, LM Chan, RWY Chan, MCW Hedlund, M Larson, JL Moss, RB Katz, JM Tumpey, TM Fang, F	2009	200
Novel point mutation of the α2-globin gene (HBA2) and a rare 2.4 kb deletion of the α1-globin gene (HBA1), identified in two chinese patients with Hb H disease Journal:Hemoglobin	So, JCC Chan, AYY Ma, ESK	2014	87
Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke Journal:Clinica Chimica Acta	Lam, CW Law, CY Siu, CWK Fung, CW Yau, MM Huen, KF Lee, HHC Mak, CM	2015	211
Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria Journal:Clinica Chimica Acta	Cho, SY Lau, EYT Luk, DCK Law, CY Lai, CK Lam, CW	2021	25
Novel pre-mRNA splicing of intronically integrated HBV generates oncogenic chimera in hepatocellular carcinoma Journal:Journal of Hepatology	Chiu, YT Wong, JKL Choi, SW Sze, KMF Ho, DWH Chan, LK Lee, JMF Man, K Cherny, SS Yang, WL Wong, CM Sham, PC Ng, IOL	2016	108
Novel prognostic markers for hepatocellular carcinoma Proceeding/Conference:Symposium on the Molecular Taxonomy of Cancer	Cheung, ST Chen, X Fong, DYK Leung, KL Ip, YC Ng, IOL Fan, ST	2004	93

Showing results 4364 to 4383 of 6670 < previous next >