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Clinica Chimica Acta; International Journal of Clinical Chemistry|August 6, 2013
Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patientSun Young Cho, Tak-Shing Siu, Oliver Ma, et al.
Journal of Human Genetics|February 2, 2021
Postzygotic inactivating mutation of KIF13A located at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndromeChing-Wan Lam, Candace Yim Chan, Ka-Chung Wong, et al.
Molecular Genetics and Metabolism|February 22, 2002
Novel donor splice site mutation of ABCG5 gene in sitosterolemiaChing-Wan Lam, Anna Wai-Fun Cheng, Sui-Fan Tong, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|September 2, 2008
Rapid diagnosis of Wilson disease by a 28-mutation panel: real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failureChloe M Mak, Ching-Wan Lam, Sik-To Lai, et al.
Japanese Journal of Infectious Diseases|May 13, 2016
Serum from Nipah Virus Patients Recognises Recombinant Viral Proteins Produced in Escherichia coliVunjia Tiong, Chui-Wan Lam, Wai-Hong Phoon, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|August 10, 2014
Quantitative metabolomics of urine for rapid etiological diagnosis of urinary tract infection: evaluation of a microbial-mammalian co-metabolite as a diagnostic biomarkerChing-Wan Lam, Chun-Yiu Law, Kong-Hung Sze, et al.
Brain & Development|December 27, 2005
Galactorrhea-a strong clinical clue towards the diagnosis of neurotransmitter diseaseWai Lan Yeung, Ching Wan Lam, Joannie Hui, et al.
Critical Reviews in Clinical Laboratory Sciences|December 4, 2013
Inborn errors of metabolism and expanded newborn screening: review and updateChloe Miu Mak, Han-Chih Hencher Lee, Albert Yan-Wo Chan, et al.
Cureus|December 9, 2025
Slow-Channel Congenital Myasthenic Syndrome due to a CHRNA1 Variant Masquerading as Atypical Anorexia Nervosa: A Case ReportTimothy Ming Him Yeung, Yuan Gao, Chun Fung So, et al.
Scientific Reports|May 16, 2018
Breast cancer associated germline structural variants harboring small noncoding RNAs impact post-transcriptional gene regulationMahalakshmi Kumaran, Preethi Krishnan, Carol E Cass, et al.
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