T. Ling

发表

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

Y. Chong, C. Mak, B. Sheng, 2018, Journal of Clinical Neuroscience.

Centrosome-associated CDC25B is a novel disease-causing gene for a syndrome with cataracts, dilated cardiomyopathy, and multiple endocrinopathies.

Xinqi Cheng, C. Lam, N. Fong, 2020, Clinica chimica acta; international journal of clinical chemistry.

Whole-exome sequencing of a quartet family identifies DTYMK mutations in siblings with mitochondrial DNA depletion syndrome.

C. Lam, C. Law, Ka-chung Wong, 2019, Clinica chimica acta; international journal of clinical chemistry.

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape

R. Rodenburg, J. Smeitink, C. Lam, 2023, Orphanet Journal of Rare Diseases.

A common COQ4 mutation in undiagnosed mitochondrial disease: a local case series

W. Chu, G. Brea-Calvo, C. Lam, 2019, Pathology (Sydney).

Clinical whole-exome sequencing reveals a common pathogenic variant in patients with COQ10 deficiency: An underdiagnosed cause of mitochondriopathy.

W. Chu, G. Brea-Calvo, C. Lam, 2019, Clinica chimica acta; international journal of clinical chemistry.

Whole-exome sequencing of a quartet family identifies DTYMK mutations in siblings with mitochondrial DNA depletion syndrome.

C. Lam, C. Law, Ka-chung Wong, 2019, Clinica chimica acta; international journal of clinical chemistry.

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape

R. Rodenburg, J. Smeitink, C. Lam, 2023, Orphanet Journal of Rare Diseases.

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

Y. Chong, C. Mak, B. Sheng, 2018, Journal of Clinical Neuroscience.

Nuclear magnetic resonance spectroscopy-based urinalysis for a young girl with extreme hypoglycaemia.

C. Lam, C. Law, Ka-chung Wong, 2021, Pathology.