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Showing results 12 to 31 of 31 < previous

Title	Author(s)	Issue Date	Views
Ethnic-specific splicing mutation of the carnitine-acylcarnitine translocase gene in a Chinese neonate presenting with sudden unexpected death Journal:Chinese Medical Journal	Lam, CW Lai, CK Chow, CB Tong, SF Yuen, YP Mak, YF Chan, YW	2003
Fatal viral infection-associated encephalopathy in two Chinese boys: A genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants Journal:Journal of Human Genetics	Mak, CM Lam, CW Fong, NC Siu, WK Lee, HCH Siu, TS Lai, CK Law, CY Tong, SF Poon, WT Lam, DSY Ng, HL Yuen, YP Tam, S Que, TL Kwong, NS Chan, AYW	2011	102
Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience Journal:Hong Kong Medical Journal	Mak, CM Chen, SPL Mok, NS Siu, WK Lee, HHC Ching, DCK Tsui, PT Fong, NC Yuen, YP Poon, DWT Law, CY Chong, YK Chan, YW Yung, TC Fan, KY Lam, CW	2018
Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria Journal:Kidney International	Yuen, YP Lam, CW Lai, CK Tong, SF Li, PS Tam, S Kwan, EYW Chan, SY Tsang, WK Chan, KY Mak, WL Cheng, CW Chan, YW	2006	242
In search of the diagnosis, and the patient: transient galactosemia demystified after 14 years Journal:Genetic Counseling	Lee, HHC Lam, CW Yuen, YP Lai, CK Chan, KY Chan, AYW	2012	57
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	180
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	177
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	203
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	288
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	198
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	149
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 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
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	135
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 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
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
Pharmacogenomic Profiling of Pediatric Acute Myeloid Leukemia to Identify Therapeutic Vulnerabilities and Inform Functional Precision Medicine Journal:Blood Cancer Discovery	Wang, H Chan, KYY Cheng, CK Ng, MHL Lee, PY Cheng, FWT Lam, GKS Chow, TW Ha, SY Chiang, AKS Leung, WH Leung, AYH Wang, CC Zhang, T Zhang, XB So, CC Yuen, YP Sun, Q Zhang, C Xu, Y Cheung, JTK Ng, WH Tang, PM Kang, W To, KF Lee, WYW Wong, RS Poon, ENY Zhao, Q Huang, J Chen, C Yuen, PMP Li, CK Leung, AWK Leung, KT	2022
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	141

Showing results 12 to 31 of 31 < previous