Specificity of Genetic Biomarker Studies in Cancer Research: A Systematic Review
Green, Garrett, Carmona, Ruben, Zakeri, Kaveh, Lee, Chih-Han, Borgan, Saif, Marhoon, Zaid, Sharabi, Andrew, Mell, Loren K
Published in PloS one (06.07.2016)
Published in PloS one (06.07.2016)
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An Improved Drugs Screening System Reveals that Baicalein Ameliorates the Aβ/AMPA/NMDA-Induced Depolarization of Neurons
Lin, Tian-Syuan, Tsai, Han-Jung, Lee, Chih-Han, Song, Yan-Qing, Huang, Rih-Sheng, Hsieh-Li, Hsiu-Mei, Liang, Mei-Chih, Lin, Yenshou
Published in Journal of Alzheimer's disease (01.01.2017)
Published in Journal of Alzheimer's disease (01.01.2017)
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Neurological manifestations in m.3243A>G-related disease triggered by metformin
Tong, Hok-Fung, Lee, Han-Chih Hencher, Tong, Tsz-Yan Tammy, Lam, Siu-Fung, Sheng, Bun, Chan, Kin-Wah, Li, June Kam-Yin, Tam, Ho-Kee Vicki, Ching, Chor-Kwan
Published in Journal of diabetes and its complications (01.03.2022)
Published in Journal of diabetes and its complications (01.03.2022)
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Successful Adaptation of Targeted Gene Panel Next-Generation Sequencing in Regional Hospital in Hong Kong: Genomic Diagnosis of SCN2A-Related Seizure Disorder
Lee, Han-Chih, Lau, Nike, Yeung, Chun-Wing, Ng, Sui-Fun, Yau, Kin-Cheong, Mak, Chloe
Published in Chinese medical journal (20.09.2018)
Published in Chinese medical journal (20.09.2018)
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Journal Article
Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese
Lee, Han-Chih Hencher, Wong, Shun, Leung, Frank Ying-Kit, Ho, Luen-Cheung, Chan, Siu-Ki Timothy, Fung, Tsui-Hang Sharon, Kwan, Kwok-Fan, Yau, Kin-Cheong Eric, Li, Ka-Wah, Yau, Wai-Nang, Leung, Hoi-Ki Cynthia, Chen, Sammy Pak-Lam, Mak, Chloe Miu
Published in Journal of neuropathology and experimental neurology (01.09.2019)
Published in Journal of neuropathology and experimental neurology (01.09.2019)
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Journal Article
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
Published in Journal of clinical laboratory analysis (01.02.2019)
Published in Journal of clinical laboratory analysis (01.02.2019)
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Journal Article
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, Yuen, Yuet-ping, Tam, Sidney, Que, Tak-lun, Kwong, Ngai-shan, Chan, Albert Yan-wo
Published in Journal of human genetics (01.08.2011)
Published in Journal of human genetics (01.08.2011)
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Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong
Lee, Han-Chih Hencher, Mak, Chloe Miu, Lam, Ching-Wan, Yuen, Yuet-Ping, Chan, Angel On-Kei, Shek, Chi-Chung, Siu, Tak-Shing, Lai, Chi-Kong, Ching, Chor-Kwan, Siu, Wai-Kwan, Chen, Sammy Pak-Lam, Law, Chun-Yiu, Tai, Hok-Leung Morris, Tam, Sidney, Chan, Albert Yan-Wo
Published in Chinese medical journal (05.04.2011)
Published in Chinese medical journal (05.04.2011)
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Case Report: The first probable Hong Kong Chinese case of LPIN1-related acute recurrent rhabdomyolysis in a boy with two novel variants [version 1; peer review: 2 approved]
Yim, Sau Wing, Chan, Tina Yee Ching, Belaramani, Kiran M., Man, Sze Shun, Wong, Felix Chi Kin, Chen, Sammy Pak-Lam, Lee, Hencher Han Chih, Mak, Chloe Miu, Ching, Chor Kwan
Published in F1000 research (2019)
Published in F1000 research (2019)
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Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area
Ling, Tsz-Ki, Wong, Ka-Chung, Chan, Candace Yim, Lau, Nike Kwai-Cheung, Law, Chun-yiu, Lee, Han-Chih Hencher, Lai, Chi-Kong, Chong, Yeow-Kuan, Yau, Kin-Cheong Eric, Cheung, Ka-Ming, Ko, Chun-Hung, Fung, Cheuk-wing, Lee, Lai-Ka, Wong, Sheila Suet-Na, Mak, Chloe M, Chan, Albert Yan-Wo, Tam, Sidney, Lam, Ching-wan
Published in Clinica chimica acta (01.10.2021)
Published in Clinica chimica acta (01.10.2021)
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Dried Blood Spot Postmortem Metabolic Autopsy With Genotype Validation for Sudden Unexpected Deaths in Infancy and Childhood in Hong Kong
Hung, Ling Yin, Mak, Chloe M, Foo, Ka Chung, Chan, Chun Hei Toby, Tong, Hok-Fung, Wong, Tsz Ki, Leung, Hoi Shan, Cheung, Ka Chai, Lee, Han Chih Hencher, Ching, Chor Kwan
Published in Curēus (Palo Alto, CA) (13.06.2024)
Published in Curēus (Palo Alto, CA) (13.06.2024)
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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
Published in Genetic testing and molecular biomarkers (01.02.2020)
Published in Genetic testing and molecular biomarkers (01.02.2020)
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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, Ching Wan
Published in Clinical neurology and neurosurgery (01.12.2020)
Published in Clinical neurology and neurosurgery (01.12.2020)
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Journal Article
Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study
Lee, Han-Chih Hencher, Lai, Chi-Kong, Yau, Kin-Cheong Eric, Siu, Tak-Shing, Mak, Chloe Miu, Yuen, Yuet-Ping, Chan, Kwok-Yin, Tam, Sidney, Lam, Ching-Wan, Chan, Albert Yan-Wo
Published in Clinica chimica acta (18.01.2012)
Published in Clinica chimica acta (18.01.2012)
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Journal Article
Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad
Gloria Pang, Shir Wey, Chih Lee, Hencher Han, Ng Wing kei, Carol, Yau, Eric Kin Cheong, Hui, Joannie
Published in Case reports in genetics (23.04.2022)
Published in Case reports in genetics (23.04.2022)
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Journal Article
Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy
Sheng, Bun, Yim, Ka Fai, Lau, Lin Kiu, Lee, Han Chih Hencher, Fung, Ka Shun Samuel, Ma, Ka Fai Johnny, Chak, Wai Leung
Published in Molecular genetics and metabolism reports (01.09.2020)
Published in Molecular genetics and metabolism reports (01.09.2020)
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Journal Article
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
Published in Diagnostic molecular pathology (01.09.2010)
Published in Diagnostic molecular pathology (01.09.2010)
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