Ching-Wan Lam
Affiliations: | The Chinese University of Hong Kong, Hong Kong, Hong Kong |
Area:
Pathology, Molecular BiologyGoogle:
"Ching-Wan Lam"
BETA: Related publications
See more...
Publications
|
You can help our author matching system! If you notice any publications incorrectly attributed to this author, please sign in and mark matches as correct or incorrect. |
| Lam CW, Fong NC, Yee-Ching Chan T, et al. (2020) Centrosome-associated CDC25B is a novel disease-causing gene for a syndrome with cataracts, dilated cardiomyopathy, and multiple endocrinopathies. Clinica Chimica Acta; International Journal of Clinical Chemistry |
| Lee HH, Wong S, Sheng B, et al. (2020) Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G > A in Hong Kong Chinese. Clinical Genetics |
| Ling TK, Law CY, Ko CH, et al. (2019) Clinical whole-exome sequencing reveals a common pathogenic variant in patients with COQ10 deficiency: An underdiagnosed cause of mitochondriopathy. Clinica Chimica Acta; International Journal of Clinical Chemistry |
| Lam CW, Yeung WL, Ling TK, et al. (2019) Whole-exome sequencing of a quartet family identifies DTYMK mutations in siblings with mitochondrial DNA depletion syndrome. Clinica Chimica Acta; International Journal of Clinical Chemistry |
| Ling T, Law C, Ko C, et al. (2019) A common COQ4 mutation in undiagnosed mitochondrial disease: a local case series Pathology. 51 |
| Lam CW, Yeung WL, Law CY. (2017) Global developmental delay and intellectual disability associated with a de novo TOP2B mutation. Clinica Chimica Acta; International Journal of Clinical Chemistry |
| Lam CW, Wong KS, Leung HW, et al. (2016) Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations. European Journal of Human Genetics : Ejhg |
| Law CY, Yeung WL, Cheung YF, et al. (2016) A common PRRT2 mutation in familial paroxysmal kinesigenic dyskinesia in Hong Kong: a case series of 16 patients. Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi. 22: 619-22 |
| Lau SK, Lee KC, Lo GC, et al. (2016) Metabolomic Profiling of Plasma from Melioidosis Patients Using UHPLC-QTOF MS Reveals Novel Biomarkers for Diagnosis. International Journal of Molecular Sciences. 17 |
| Siu WK, Lam CW, Gao WW, et al. (2015) Unmasking a novel disease gene NEO1 associated with autism spectrum disorders by a hemizygous deletion on chromosome 15 and a functional polymorphism. Behavioural Brain Research |