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Clinica Chimica Acta; International Journal of Clinical Chemistry|September 5, 2022
C-terminal truncated SPOP, a Janus-faced variant, causing a mixed type 1 and type 2 Nabais Sa-de Vries syndromeChun-Yiu Law, Ching-Wan Lam
Journal of Proteome Research|August 14, 2014
Untargeted mass spectrometry-based metabolomic profiling of pleural effusions: fatty acids as novel cancer biomarkers for malignant pleural effusionsChing-Wan Lam, Chun-Yiu Law
Journal of Proteome Research|July 30, 2014
Pleural effusion lipoproteins measured by NMR spectroscopy for diagnosis of exudative pleural effusions: a novel tool for pore-size estimationChing-Wan Lam, Chun-Yiu Law
Clinica Chimica Acta; International Journal of Clinical Chemistry|March 28, 2017
Global developmental delay and intellectual disability associated with a de novo TOP2B mutationChing-Wan Lam, Wai-Lan Yeung, Chun-Yiu Law
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 2, 2016
Novel large deletion in AVPR2 gene causing copy number variation in a patient with X-linked nephrogenic diabetes insipidusSun Young Cho, Chun Yiu Law, Kwok Leung Ng, et al.
European Journal of Human Genetics : EJHG|December 15, 2016
Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutationsChing-Wan Lam, Ka-Sing Wong, Ho-Wan Leung, et al.
Respirology Case Reports|February 16, 2022
Changing pleural fluid triglyceride levels in cirrhotic chylothoraxKa Pang Chan, Wing Ho Yip, Tina Yee Ching Chan, 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.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 5, 2019
Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndromeChing-Wan Lam, Wai-Lan Yeung, Tsz-Ki Ling, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|May 11, 2012
A case of early-onset obesity, hypocortisolism, and skin pigmentation problem due to a novel homozygous mutation in the proopiomelanocortin (POMC) gene in an Indian boyChing-Ngar Hung, Wing-Tat Poon, Ching-Yin Lee, et al.
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