Showing results (21-30 of 47) with videos related to

Sort By:
Pageof 5
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 21, 2019
Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ<sub>10</sub> deficiency: An underdiagnosed cause of mitochondriopathyTsz-Ki Ling, Chun-Yiu Law, Kin-Wing Yan, et al.
Cureus|March 21, 2025
Views of the Public and Healthcare Professionals on Newborn Screening for Spinal Muscular Atrophy and the Potential for Detecting Adult-Onset Types in Patients-in-Waiting in Hong KongChloe M Mak, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|November 5, 2023
Allan-Herndon-Dudley syndrome in Hong Kong: Implication for newborn screeningRachel Sze-Wan Yiu, Tsz-Ki Ling, Chun-Hung Ko, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|December 3, 2014
NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndromeChing-Wan Lam, Chun-Yiu Law, Ka-Fei Leung, et al.
Toxicon : Official Journal of the International Society on Toxinology|October 2, 2018
Gelsemium poisoning mediated by the non-toxic plant Cassytha filiformis parasitizing Gelsemium elegansWing Lan Cheung, Chun Yiu Law, Han Chih Hencher Lee, et al.
Chinese Medical Journal|September 22, 2011
Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, ChinaChloe Miu Mak, Chun-Hung Ko, Ching-Wan Lam, et al.
International Journal of Neonatal Screening|October 24, 2025
Validation on the First-Tier Fully Automated High-Throughput <i>SMN1</i>, <i>SMN2</i>, TREC, and <i>RPP30</i> Quantification by Quadruplex Droplet Digital PCR for Newborn Screening for Spinal Muscular Atrophy and Severe Combined ImmunodeficiencyChloe Miu Mak, Timothy Yiu Cheong Ho, Man Kwan Yip, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 12, 2011
Non-invasive screening of HLA-DPA1 and HLA-DPB1 alleles for persistent hepatitis B virus infection: susceptibility for vertical transmission and toward a personalized approach for vaccination and treatmentKin-Chong Lau, Ching-Wan Lam, Chun-Yiu Law, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|June 15, 2024
Computer-assisted patient identification tool in inborn errors of metabolism - potential for rare disease patient registry and big data analysisChloe Miu Mak, Pauline Pao Sun Woo, Felicite Enyu Song, et al.
Familial Cancer|July 7, 2011
Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumorsWai Kwan Siu, Chun Yiu Law, Ching Wan Lam, et al.
Pageof 5