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Showing results 5 to 14 of 14 < previous

	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
	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
	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	166
	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
	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	212
	Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation Journal:Diagnostic Molecular Pathology	Mak, CM Lee, CY Lam, CW Siu, WK Hung, VCN Chan, AYW	2012	62
	Phenylketonuria in Hong Kong Chinese: A call for hyperphenylalaninemia newborn screening in the special administrative region, China Journal:Chinese Medical Journal	Mak, CM Ko, CH Lam, CW Lau, WL Siu, WK Chen, SPL Law, CY Lai, CK Yu, CM Chan, AYW	2011	175
	The first pilot study of expanded newborn screening for inborn errors of metabolism and survey of related knowledge and opinions of health care professionals in Hong Kong Journal:Hong Kong Medical Journal	Mak, CM Law, EC Lee, HH Siu, WK Chow, KM Au Yeung, SK Ngan, HYS Tse, NK Kwong, NS Chan, GC Lee, KW Chan, WP Wong, SF Tang, MH Kan, AS Hui, AP So, PL Shek, CC Lee, RS Wong, KY Yau, EK Poon, KH Siu, S Poon, GW Kwok, AM Ng, JW Yim, VC Ma, GG Chu, CH Tong, TY Chong, YK Chen, SP Ching, CK Chan, AO Tam, S Lau, RL Ng, WF Lee, KC Chan, AY Lam, CW	2018	91

Showing results 5 to 14 of 14 < previous