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Showing results 46 to 65 of 103 < previous next >

Title	Author(s)	Issue Date	Views
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	184
A four-part setting on examining the anxiety-provoking capacity of the sound of dental equipment Journal:Noise & Health	Wong, HM Mak, CM Xu, YF	2011	162
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	87
Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients Journal:Hong Kong Medical Journal	Mak, CM Chan, KY Yau, EKC Chen, SPL Siu, WK Law, CY Lam, CW Chan, AYW	2011	155
Genetics of Apparently Sporadic Pheochromocytoma and Paraganglioma in a Chinese Population Journal:Hormone and Metabolic Research	Lee, CHP Cheung, CYY Chow, WS Woo, YC Yeung, CY Lang, BHH Fong, CHY Kwok, KHM Chen, SPL Mak, CM Tan, KCB Lam, KSL	2015	77
Genetics of familial amyloidotic polyneuropathy in a Hong Kong Chinese kindred Journal:Acta Neurologica Scandinavica	Mak, CM Lam, CW Fan, ST Liu, CL Tam, SC	2003	188
Genotype-confirmed alanine aminotransferase deficiency in a Chinese patient with acute liver failure: A potential diagnostic pitfall Journal:Pathology	Mak, CM Fong, BMW Lam, CW Tam, S	2010	132
Halt hereditary tragedy by bridging the gap between knowledge and application of technolog Journal:Hong Kong Medical Journal	Lau, KK Ng, EHY Tso, YM Mak, CM	2015	33
Hereditary spastic paraplegia: Identification of an SPG3A gene mutation in a Chinese family Journal:Hong Kong Medical Journal	Chan, KY Ching, CK Mak, CM Lam, CW Chan, AYW	2009	172
How the high-volume evacuation alters the flow-field and particle removal characteristics in the mock-up dental clinic Journal:Building and Environment	Li, X Mak, CM Ma, KW Wong, HM	2021	14
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosis Journal:Hong Kong Medical Journal	Lee, HHC Poon, KH Lai, CK Au, KM Siu, TS Lai, JPS Mak, CM Yuen, LYP Lam, CW Chan, AYW	2014	66
Hypoglycaemia due to autoimmune insulin syndrome in a 78-year-old Chinese man Journal:Br J Biomed Sci	Yeung, CW Mak, CM Lam, KSL Tam, S	2012	51
Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese Journal:Amyloid	Mak, CM Kwong, YL Lam, CW Chan, SC Lo, CM Fan, ST Chang, CM Lau, YK LokSun, U Tam, S	2007	138
Inborn errors of metabolism and expanded newborn screening: review and update Journal:Critical Reviews in Clinical Laboratory Sciences	Mak, CM Lee, HHC Chan, AYW Lam, CW	2013	40
Isolated persistent elevation of alanine transaminase for early diagnosis of pre-symptomatic Wilson’s disease in Chinese children Journal:World Journal of Pediatrics	Hui, J Yuen, LYP Chow, CM Chong, J Chiang, G Cheung, CK Law, EL Mak, CM Lam, CW Yuen, PM	2013	45
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	257
Molecular diagnosis for a fatal case of very long-chain Acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening Journal:Diagnostic Molecular Pathology	Siu, WK Mak, CM Siu, SLY Siu, TS Pang, CY Lam, CW Kwong, NS Chan, AYW	2012	39
Mutational analysis for Wilson's disease Journal:The Lancet	Seto, WK Mak, CM But, D Hung, I Lam, CW Tam, S Yuen, MF Lai, CL	2009	177
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity Journal:Journal of Human Genetics	Mak, CM Lam, CW Tam, S Lai, CL Chan, LY Fan, ST Lau, YL Lai, JY Yuen, P Hui, J Fu, CC Wong, KS Mak, WL Tze, K Tong, SF Lau, A Leung, N Hui, A Cheung, KM Ko, CH Chan, YK Ma, O Chau, TN Chiu, A Chan, YW	2008	172
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity (Journal of Human Genetics (2008) 53 (55-63) DOI: 10.1007/s10038-007-0218-2) Journal:Journal of Human Genetics	Mak, CM Lam, CW Tam, S Lai, CL Chan, LY Fan, ST Lau, YL Lai, ST Yuen, P Hui, J Fu, CC Wong, KS Mak, WL Tze, K Tong, SF Lau, A Leung, N Hui, A Cheung, KM Ko, CH Chan, YK Ma, O Chau, TN Chiu, A Chan, YW	2008	184

Showing results 46 to 65 of 103 < previous next >