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Showing results 58 to 77 of 103 < previous next >

Title	Author(s)	Issue Date	Views
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
Near fields of annular slotted hoods measured via 2D-PIV Journal:Building and Environment	Chen, W Liu, J Mak, CM Wang, P Zhao, L Wong, HM	2018	34
Negative effects of dental equipment noise on dental professionals’ health quality Proceeding/Conference:26th International Congress on Sound and Vibration (ICSV26), 2019	Ma, KW Wong, HM Mak, CM	2019	41
New criteria for assessing low wind environment at pedestrian level in Hong Kong Journal:Building and Environment	Du, Y Mak, CM Kwok, K Tse, KT Lee, TC Ai, Z Liu, J Niu, J	2017	50
A new presentation of 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency - Dopa Responsive Dystonia (DRD) Proceeding/Conference:Journal of Inherited Metabolic Disease	Fung, CW Blau, N Siu, S Mak, CM Cheung, PT Tam, S Wong, VCN	2007	148
NMR-based urinalysis for beta-ketothiolase deficiency Journal:Clinica Chimica Acta	Law, CY Lam, CW Ching, DCK Yau, KC Ho, TW Lai, CK Mak, CM	2015	44
NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome Journal:Clinica Chimica Acta	Lam, CW Law, CY Leung, KF Lai, CK Chen, SPL Chan, B Chan, KY Yuen, LYP Mak, CM Chan, AYW	2015	57
Noise level and its influences on dental professionals in a dental hospital in Hong Kong Journal:Building Services Engineering Research & Technology	Ai, ZT Mak, CM Wong, HM	2017	43
Non-invasive screening of HLA-DPA1 and HLA-DPB1 alleles for persistent hepatitis B virus infection: Susceptibility for vertical transmission and toward a personalized approach for vaccination and treatment Journal:Clinica Chimica Acta	Lau, KC Lam, CW Law, CY Lai, ST Tsang, TY Siu, CWK To, WK Leung, KF Mak, CM Poon, WT Chan, PKS Chan, YW	2011	133
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	173
Novel insertion 496_497insG creating a stop codon D194X in a Chinese family with X-Linked adrenoleukodystrophy Journal:Hormone Research	Mak, CM Lam, KSL Ma, OC Tso, AWK Tam, S	2005	154
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
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	183

Showing results 58 to 77 of 103 < previous next >