Chloe M. Mak: search on Z-Library

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1

Long-term effects of exercise and physical therapy in people with Parkinson disease

Mak, Margaret K., Wong-Yu, Irene S., Shen, Xia, Chung, Chloe L.

Journal:

Nature Reviews Neurology (formerly Nature Clinical Practice Neurology)

Year:

2017

Language:

english

File:

PDF, 388 KB

english, 2017

2

Clinical and Translational Perspectives on WILSON DISEASE || Biochemical Diagnosis of Wilson Disease

Year:

2019

Language:

english

File:

PDF, 394 KB

english, 2019

3

Clinical manifestation of late onset Pompe disease patients in Hong Kong

Chu, Yim Pui, Sheng, Bun, Lau, Kwok Kwong, Chan, Hiu Fai, Kam, Grace Yee Wai, Lee, Hencher Han Chih, Mak, Chloe Miu

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 545 KB

english, 2016

4

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

Kin-Chong Lau, Ching-Wan Lam, Chun-Yiu Law, Sik-To Lai, Tak-Yin Tsang, Carol Wai-Kwan Siu, Wing-Kin To, Ka-Fai Leung, Chloe Miu Mak, Wing-Tat Poon, Paul Kay-Sheung Chan, Yan-Wo Chan

Journal:

Clinica Chimica Acta

Year:

2011

Language:

english

File:

PDF, 782 KB

english, 2011

5

Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene

Chloe M Mak, Karen S.L Lam, Kathryn C.B Tan, Oliver C Ma, Sidney Tam

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 139 KB

english, 2004

6

Young-Onset Parkinsonism in a Hong Kong Chinese Man With Adult-Onset Hallervorden–Spatz Syndrome

Mak, Chloe Miu, Sheng, Bun, Lee, Hencher Han-chih, Lau, Kwok-kwong, Chan, Wing-tak, Lam, Ching-wan, Chan, Yan-wo

Journal:

International Journal of Neuroscience

Year:

2011

Language:

english

File:

PDF, 167 KB

english, 2011

7

Genotype-confirmed alanine aminotransferase deficiency in a Chinese patient with acute liver failure: a potential diagnostic pitfall

Mak, Chloe Miu, Fong, Bonnie Mei-wah, Lam, Ching-wan, Tam, Sidney

Journal:

Year:

2010

Language:

english

File:

PDF, 231 KB

english, 2010

8

Performance evaluation of five commercial assays for detection of acetaminophen

Chan, Bao-Yum, Tsang, Hing-Man, Ng, Candy Wai-Yan, Ling, William Hin-Wing, Leung, Daniel Cheuk-Wa, Lee, Hencher Han-Chih, Mak, Chloe Miu

Journal:

Journal of Clinical Laboratory Analysis

Year:

2018

Language:

english

File:

PDF, 431 KB

english, 2018

9

A rare variant of transthyretin-related amyloidosis associated with exclusive cardiomyopathy in a Hong Kong Chinese patient

Wong, Chi Wing, Ng, Wai Yan, So, Ka Li, Chan, Yu Ho, Yip, Sze Fai, Mak, Chloe Miu

Journal:

Journal of Cardiology Cases

Year:

2018

Language:

english

File:

PDF, 1.04 MB

english, 2018

10

Novel nonsenseCDC73mutations in Chinese patients with parathyroid tumors

Wai Kwan Siu, Chun Yiu Law, Ching Wan Lam, Chloe Miu Mak, Gary Wing Kin Wong, Andrew Yiu Yan Ho, Kwok Yip Ho, Ka Tai Loo, Sin Chuen Chiu, Louis Tsun Cheung Chow, Sui Fan Tong, Albert Yan Wo Chan

Journal:

Familial Cancer

Year:

2011

Language:

english

File:

PDF, 362 KB

english, 2011

11

Application of pharmacogenetics: UGT1A1*28 and nilotinib-induced unconjugated hyperbilirubinaemia in a patient with chronic myeloid leukaemia

Chen, Sammy Pak-lam, Poon, Wing-tat, Mak, Chloe Miu, Lam, Ching-wan, Kwong, Yok-lam, Chan, Albert Yan-wo, Tam, Sidney

Journal:

Year:

2011

Language:

english

File:

PDF, 70 KB

english, 2011

12

Arginase Deficiency With New Phenotype and a Novel Mutation: Contemporary Summary

Jane Pui Ki Tsang, Wai Lun Poon, Ho Ming Luk, Cheuk Wing Fung, Chor Kwan Ching, Chloe Miu Mak, Ching Wan Lam, Tak Shing Siu, Sidney Tam, Virginia C.N. Wong

Journal:

Pediatric Neurology

Year:

2012

Language:

english

File:

PDF, 1.02 MB

english, 2012

13

p85Î² regulates autophagic degradation of AXL to activate oncogenic signaling

Rao, Ling, Mak, Victor C. Y., Zhou, Yuan, Zhang, Dong, Li, Xinran, Fung, Chloe C. Y., Sharma, Rakesh, Gu, Chao, Lu, Yiling, Tipoe, George L., Cheung, Annie N. Y., Mills, Gordon B., Cheung, Lydia W. T.

Journal:

Nature Communications

Year:

2020

File:

PDF, 6.65 MB

2020

14

Role of Postmortem Genetic Testing Demonstrated in a Case of Glutaric Aciduria Type II

Lee, Han-Chih Hencher, Lai, Chi-Kong, Siu, Tak-Shing, Yuen, Yuet-Ping, Chan, Kwok-Yin, Chan, Albert Yan-Wo, Tam, Sidney, Mak, Chloe Miu, Lam, Ching-Wan

Journal:

Diagnostic Molecular Pathology

Year:

2010

Language:

english

File:

PDF, 90 KB

english, 2010

15

NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome

Lam, Ching-Wan, Law, Chun-Yiu, Leung, Ka-Fei, Lai, Chi-Kong, Pak-lam Chen, Sammy, Chan, Bosco, Chan, Kwok-yin, Yuen, Yuet-ping, Mak, Chloe Miu, Yan-wo Chan, Albert

Journal:

Clinica Chimica Acta

Year:

2015

Language:

english

File:

PDF, 483 KB

english, 2015

16

Flexi-Myo Panel Strategy: Genomic Diagnoses of Myopathies and Muscular Dystrophies by Next-Generation Sequencing

Lee, Han-Chih Hencher, Lau, Wai-Ling, Ko, Chun-Hung, Lee, Kam-Cheong, Cheng, Fung-Yip, Wong, Shun, Woo, Yip-Hin, Mak, Chloe Miu

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2019

Language:

english

File:

PDF, 293 KB

english, 2019

17

Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype

Au, Lisa Wing Chi, Lee, Hencher Han Chih, Sheng, Bun, Chan, Kwok Yin, Yau, Eric Kin Cheong, Mak, Chloe Miu, Chan, Albert Yan Wo, Chan, Anne Yin Yan, Lau, Claire Ka Yee, Mok, Vincent Chung Tong, Lam, C

Journal:

Clinical Neurology and Neurosurgery

Year:

2020

File:

PDF, 291 KB

2020

18

Circulating fluorocytes at the first attack of acute intermittent porphyria: A missing link in the pathogenesis

Ching-Wan Lam, Kin-Chong Lau, Chloe Miu Mak, Man-Wo Tsang, Yan-Wo Chan

Journal:

Clinica Chimica Acta

Year:

2011

Language:

english

File:

PDF, 992 KB

english, 2011

19

Inborn errors of metabolism and expanded newborn screening: review and update

Mak, Chloe Miu, Lee, Han-Chih Hencher, Chan, Albert Yan-Wo, Lam, Ching-Wan

Journal:

Critical Reviews in Clinical Laboratory Sciences

Year:

2013

Language:

english

File:

PDF, 425 KB

english, 2013

20

Effects of experiential learning on students: an ecotourism service-learning course

Mak, Barry, Lau, Chloe, Wong, Alan

Journal:

Journal of Teaching in Travel & Tourism

Year:

2017

Language:

english

File:

PDF, 1.27 MB

english, 2017

21

Molecular Diagnosis for a Fatal Case of Very Long-chain Acyl-CoA Dehydrogenase Deficiency in Hong Kong Chinese With a Novel Mutation

Siu, Wai-Kwan, Mak, Chloe Miu, Siu, Sylvia Luen-Yee, Siu, Tak-Shing, Pang, Chun-Yin, Lam, Ching-Wan, Kwong, Ngan-Shan, Chan, Albert Yan-Wo

Journal:

Diagnostic Molecular Pathology

Year:

2012

Language:

english

File:

PDF, 242 KB

english, 2012

22

First case of genetically confirmed CLN3 disease in Chinese with cDNA sequencing revealing pathogenicity of a novel splice site variant

Lau, Nike Kwai-Cheung, Ching, Chor Kwan, Lee, Hencher Han Chih, Chak, Wai Kwong Mario, Kwan Shing, N.G., Hanchard, Neil A., Mak, Chloe Miu

Journal:

Clinica Chimica Acta

Year:

2018

Language:

english

File:

PDF, 3.02 MB

english, 2018

23

Rapid Genotyping of Swine Influenza Viruses

Mak, Polly W.Y., Wong, Chloe K.S., Li, Olive T.W., Chan, Kwok Hung, Cheung, Chung Lam, Ma, Edward S., Webby, Richard J., Guan, Yi, Peiris, Joseph S. Malik, Poon, Leo L.M.

Journal:

Emerging Infectious Diseases

Year:

2011

Language:

english

File:

PDF, 310 KB

english, 2011

24

Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong

Tse, Gary, Lee, Sharen, Liu, Tong, Yuen, Ho Chuen, Wong, Ian Chi Kei, Mak, Chloe, Mok, Ngai Shing, Wong, Wing Tak

Journal:

Frontiers in Physiology

Year:

2020

File:

PDF, 356 KB

2020

25

A fast modified protocol for random-access ultra-high density whole-genome scan: A tool for personalized genomic medicine, positional mapping, and cytogenetic analysis

Kin-Chong Lau, Chloe M. Mak, Kwok-Yin Leung, Tak-Hong Tsoi, Hoi-Yin Tang, Patrizia Lee, Ching-Wan Lam

Journal:

Clinica Chimica Acta

Year:

2009

Language:

english

File:

PDF, 980 KB

english, 2009

26

Novel Insertion 496_497insG Creating a Stop Codon D194X in a Chinese Family with X-Linked Adrenoleukodystrophy

Mak, Chloe M., Lam, Karen S.L., Ma, Oliver C., Tso, Annette W.K., Tam, Sidney

Journal:

Hormone Research

Year:

2005

Language:

english

File:

PDF, 146 KB

english, 2005

27

Successful Adaptation of Targeted Gene Panel Next-Generation Sequencing in Regional Hospital in Hong Kong

Lee, Han-Chih Hencher, Lau, Nike Kwai-Cheung, Yeung, Chun-Wing, Ng, Sui-Fun Grace, Yau, Kin-Cheong Eric, Mak, Chloe Miu

Journal:

Chinese Medical Journal

Year:

2018

Language:

english

File:

PDF, 826 KB

english, 2018

28

Personalized Medicine Switching from Insulin to Sulfonylurea in Permanent Neonatal Diabetes Mellitus Dictated by a Novel Activating ABCC8 Mutation

Mak, Chloe Miu, Lee, Ching-yin, LAM, Ching-wan, Siu, Wai-Kwan, Hung, Vanessa Ching-ngar, Chan, Albert Yan-wo

Journal:

Diagnostic Molecular Pathology

Year:

2012

Language:

english

File:

PDF, 169 KB

english, 2012

29

Genetic diagnosis of CADASIL in three Hong Kong Chinese patients: A novel mutation within the intracellular domain of NOTCH3

Hung, Ling Yin, Ling, Tsz Ki, Lau, Nike Kwai Cheung, Cheung, Wing Lan, Chong, Yeow Kuan, Sheng, Bun, Kwok, King Ming, Mak, Chloe Miu

Journal:

Journal of Clinical Neuroscience

Year:

2018

Language:

english

File:

PDF, 1.03 MB

english, 2018

30

Rapid Genotyping of Swine Influenza Viruses

Mak, Polly W.Y., Wong, Chloe K.S., Li, Olive T.W., Chan, Kwok Hung, Cheung, Chung Lam, Ma, Edward S., Webby, Richard J., Guan, Yi, Peiris, Joseph S. Malik, Poon, Leo L.M.

Journal:

Emerging Infectious Diseases

Year:

2011

Language:

english

File:

PDF, 2.98 MB

english, 2011

31

Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke

Lam, Ching-Wan, Law, Chun-Yiu, Siu, Wai-Kwan, Fung, Cheuk-Wing, Yau, Man-Mut, Huen, Kwai-Fun, Lee, Hencher Han-Chih, Mak, Chloe Miu

Journal:

Clinica Chimica Acta

Year:

2015

Language:

english

File:

PDF, 702 KB

english, 2015

32

Detection of gross deletions in SLC25A13 with in-house multiplex ligation-dependent probe amplification (MLPA) probemix for molecular diagnosis of citrin deficiency

Lau, Nike K.C., Lee, Hencher H.C., Chen, Sammy P.L., Ching, C.K., Shek, C.C., Yuen, Y.P., Mak, Chloe M.

Journal:

Year:

2019

Language:

english

File:

PDF, 51 KB

english, 2019

33

Determination of cerebrospinal fluid adenosine deaminase activity cut-off for the diagnosis of tuberculous meningitis in Hong Kong

Chan, Toby Chun Hei, Chen, Sammy Pak Lam, Mak, Chloe Miu, Ching, Chor Kwan, Luk, Kristine Shik, Tsang, Yat Ming, Leung, Daniel Cheuk Wa

Journal:

Journal of Clinical Pathology

Year:

2020

File:

PDF, 278 KB

2020

34

Rapid diagnosis of Wilson disease by a 28-mutation panel: Real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure

Chloe M. Mak, Ching-Wan Lam, Sik-To Lai, Yui Hui, Sidney Tam

Journal:

Clinica Chimica Acta

Year:

2008

Language:

english

File:

PDF, 480 KB

english, 2008

35

Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese

Mak, Chloe M., Kwong, Yok-Lam, Lam, Ching-Wan, Chan, See-Ching, Lo, Chung-Mau, Fan, Sheung-Tak, Chang, Chee-My, Lau, Yuk-Kwong, U, Lok-Sun, Tam, Sidney

Journal:

Year:

2007

Language:

english

File:

PDF, 193 KB

english, 2007

36

Bi-variate approach to negative interference of bilirubin towards an acetaminophen assay

Chong, Yeow Kuan, Mak, Chloe Miu, Lam, Hiu Laam, Lau, Man Han, Leung, Daniel Cheuk Wa

Journal:

Clinical Biochemistry

Year:

2015

Language:

english

File:

PDF, 519 KB

english, 2015

37

Correlation study between spot urine protein-to-creatinine ratio and 24-hour urine protein measurement in 174 patients for proteinuria assessment

Wai Kwan Siu, Chloe Miu Mak, Han Chih Hencher Lee, Sidney Tam, Joseph Lee, Tak Mao Chan, Ka Shun Samuel Fung, Kwok Lung Matthew Tong, Yan Wo Albert Chan

Journal:

Hong Kong Journal of Nephrology

Year:

2011

Language:

english

File:

PDF, 370 KB

english, 2011

38

Allele dropout caused by a non-primer-site SNV affecting PCR amplification — A call for next-generation primer design algorithm

Lam, Ching-wan, Mak, Chloe Miu

Journal:

Clinica Chimica Acta

Year:

2013

Language:

english

File:

PDF, 994 KB

english, 2013

39

Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants

Mak, Chloe Miu, Lam, Ching-wan, Fong, Nai-chung, Siu, Wai-kwan, Lee, Han-chih Hencher, Siu, Tak-shing, Lai, Chi-kong, Law, Chun-yiu, Tong, Sui-fun, Poon, Wing-tat, Lam, David Shu-yan, Ng, Ho-leung, Yu

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 366 KB

english, 2011

40

Reviewing the impact of 11 national Be Clear on Cancer public awareness campaigns, England 2012â2016: a synthesis of published evaluation results

Lai, Jennifer, Mak, Vivian, Bright, Chloe J, Lyratzopoulos, Georgios, EllissâBrookes, Lucy, Gildea, Carolynn

Journal:

International Journal of Cancer

Year:

2020

File:

PDF, 1.35 MB

2020

41

Efficacy of Phase 1 of Life Goals Programme on symptom reduction and mood stability for bipolar disorder

So, Suzanne H., Mak, Arthur Dun-ping, Chan, Pui-shuen, Lo, Chloe Chor-wing, Na, Shirley, Leung, Michelle Hoi-ting, Ng, Iris Hoi-ching, Chau, Anson Kai Chun, Lee, Sing

Journal:

Journal of Affective Disorders

Year:

2020

File:

PDF, 564 KB

2020

42

Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity

Chloe Miu Mak, Ching-Wan Lam, Sidney Tam, Ching-Lung Lai, Lik-Yuen Chan, Sheung-Tat Fan, Yu-Lung Lau, Jak-Yiu Lai, Patrick Yuen, Joannie Hui, Chun-Cheung Fu, Ka-Sing Wong, Wing-Lai Mak, Kong Tze, Sui-

Journal:

Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 301 KB

english, 2008

43

Diagnosis of Wilson's Disease: A Comprehensive Review

Mak, Chloe M., Lam, Ching-Wan

Journal:

Critical Reviews in Clinical Laboratory Sciences

Year:

2008

Language:

english

File:

PDF, 780 KB

english, 2008

44

Moment-to-moment interaction between affectivity and coping behaviours in bipolar disorder and the role of cognitive appraisals

Leung, Michelle Hoi-ting, So, Suzanne Ho-wai, Kwok, Nate Tsz-Kit, Ng, Iris Hoi-ching, Chan, Pui-shuen, Lo, Chloe Chor-wing, Na, Shirley, Mak, Arthur Dun-ping, Lee, Sing

Journal:

British Journal of Psychiatry Open

Year:

2019

Language:

english

File:

PDF, 265 KB

english, 2019

45

Transcranial magnetic stimulation promotes gait training in Parkinson's disease

Chung, Chloe LauâHa, Mak, Margaret KitâYi, Hallett, Mark

Journal:

Annals of Neurology

Year:

2020

File:

PDF, 1.48 MB

2020

46

Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity

Chloe Miu Mak, Ching-Wan Lam, Sidney Tam, Ching-Lung Lai, Lik-Yuen Chan, Sheung-Tat Fan, Yu-Lung Lau, Sik-To Lai, Patrick Yuen, Joannie Hui, Chun-Cheung Fu, Ka-Sing Wong, Wing-Lai Mak, Kong Tze, Sui-F

Journal:

Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 85 KB

english, 2008

47

Mutational analysis for Wilson's disease

Wai Kay Seto, Chloe Miu Mak, David But, Ivun Hung, Ching Wan Lam, Sidney Tam, Man Fung Yuen, Ching Lung Lai

Journal:

Year:

2009

Language:

english

File:

PDF, 77 KB

english, 2009

48

NMR-based urinalysis for beta-ketothiolase deficiency

Law, Chun-Yiu, Lam, Ching-Wan, Ching, Chor-kwan, Yau, Kin-Cheong Eric, Ho, Tsz-wai, Lai, Chi-kong, Mak, Chloe Miu

Journal:

Clinica Chimica Acta

Year:

2015

Language:

english

File:

PDF, 695 KB

english, 2015

49

Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: Recommendation for expanded newborn screening in Hong Kong

Mak, Chloe Miu, Lam, Ching-wan, Chim, Stella, Siu, Tak-shing, Ng, King-fai, Tam, Sidney

Journal:

Clinical Biochemistry

Year:

2013

Language:

english

File:

PDF, 694 KB

english, 2013

50

Successful Adaptation of Targeted Gene Panel Next-Generation Sequencing in Regional Hospital in Hong Kong

Lee, Han-Chih Hencher, Lau, Nike Kwai-Cheung, Yeung, Chun-Wing, Ng, Sui-Fun Grace, Yau, Kin-Cheong Eric, Mak, Chloe Miu

Journal:

Chinese Medical Journal

Year:

2018

File:

PDF, 826 KB

2018

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