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	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	160
	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	183
	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	303
	Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study Journal:Clinica Chimica Acta	Lee, HCH Lai, CK Yau, KCE Siu, TS Mak, CM Yuen, YP Chan, KY Tam, S Lam, CW Chan, AYW	2012	197
	A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia Journal:Hong Kong Medical Journal	Lee, HHC Lee, RSY Lai, CK Yuen, YP Siu, TS Chan, AYW Lam, CW	2010	151
	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	173
	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	152
	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
	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	119
	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	145
	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	165
	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
	Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II Journal:Diagnostic Molecular Pathology	Lee, HCH Lai, CK Siu, TS Yuen, YP Chan, KY Chan, AYW Tam, S Mak, CM Lam, CW	2010	138

Showing results 17 to 30 of 30 < previous