742 results on '"Lam, Ching Wan"'
Search Results
2. Computer-assisted patient identification tool in inborn errors of metabolism – potential for rare disease patient registry and big data analysis
3. Enumeration of constitutional isomers of methyl alkanes by means of alkyl biradicals: equivalence of odd and even isomer series of symmetrical methyl alkanes
4. A prospective follow-up on thyroid function, thyroid autoimmunity and long COVID among 250 COVID-19 survivors
5. Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape
6. Allan-Herndon-Dudley syndrome in Hong Kong: Implication for newborn screening
7. Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)
8. Higher SARS-CoV-2 viral loads correlated with smaller thyroid volumes on ultrasound among male COVID-19 survivors
9. Long COVID in Patients With Mild to Moderate Disease: Do Thyroid Function and Autoimmunity Play a Role?
10. Postzygotic inactivating mutation of KIF13A located at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndrome
11. CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers
12. Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome
13. A tricyclic pyrrolobenzodiazepine produced by Klebsiella oxytoca is associated with cytotoxicity in antibiotic-associated hemorrhagic colitis
14. Unmasking a novel disease gene NEO1 associated with autism spectrum disorders by a hemizygous deletion on chromosome 15 and a functional polymorphism
15. A prospective follow-up of thyroid volume and thyroiditis features on ultrasonography among survivors of predominantly mild to moderate COVID-19
16. Lipid mediators of inflammation as novel plasma biomarkers to identify patients with bacteremia
17. Glutathione and Thioredoxin Antioxidant Pathways Synergize to Drive Cancer Initiation and Progression
18. Quantitative metabolomics of urine for rapid etiological diagnosis of urinary tract infection: Evaluation of a microbial–mammalian co-metabolite as a diagnostic biomarker
19. A missense variant in SLC12A3 gene enhances aberrant splicing causing Gitelman syndrome
20. Additional file 1 of Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape
21. NMR-based metabolomic urinalysis: A rapid screening test for urinary tract infection
22. PrimeIndel: Four-prime-number genetic code for indel decryption and sequence read alignment
23. Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong
24. Mitochondrial Diseases in Hong Kong: Prevalence, Clinical characteristics and Genetic landscape
25. X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation
26. Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency
27. Allele dropout caused by a non-primer-site SNV affecting PCR amplification — A call for next-generation primer design algorithm
28. Nuclear magnetic resonance spectroscopy-based urinalysis for a young girl with extreme hypoglycaemia
29. Arginase Deficiency With New Phenotype and a Novel Mutation: Contemporary Summary
30. Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study
31. 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 treatment
32. Novel finding of lissencephaly and severe osteopenia in a Chinese patient withSATB2‐associated syndrome and a brief review of literature
33. Optimal pooling strategy for liquid chromatography-high resolution mass spectrometry (LC-HR-MS) urine drug screening
34. An Unsupervised Machine Learning Clustering and Prediction of Differential Clinical Phenotypes of COVID-19 Patients Based on Blood Tests—A Hong Kong Population Study
35. The Independent Association of TSH and Free Triiodothyronine Levels With Lymphocyte Counts Among COVID-19 Patients
36. Human Papillomavirus Type 16 Intratypic Variant Infection and Risk for Cervical Neoplasia in Southern China
37. A fast modified protocol for random-access ultra-high density whole-genome scan: A tool for personalized genomic medicine, positional mapping, and cytogenetic analysis
38. Diagnosis and spectrum of melamine-related renal disease: Plausible mechanism of stone formation in humans
39. Isolated persistent elevation of alanine transaminase for early diagnosis of pre-symptomatic Wilson’s disease in Chinese children
40. The Impact of Interferon Beta-1b Therapy on Thyroid Function and Autoimmunity Among COVID-19 Survivors
41. Development and promotion in translational medicine: perspectives from 2012 sino-american symposium on clinical and translational medicine
42. International symposium on “Food and Health: from Measurement Science to Quality and Safety”
43. Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors
44. A universal algorithm for de novo decrypting of heterozygous indel sequences: A tool for personalized medicine
45. Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient
46. Rapid diagnosis of Wilson disease by a 28-mutation panel: Real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure
47. Maternally inherited Leigh syndrome: an unusual cause of infantile apnea
48. Analysis of melamine cyanurate in urine using matrix-assisted laser desorption/ionization mass spectrometry
49. A 21-year-old pregnant woman with hypertension and proteinuria
50. Insights from a Prospective Follow-up of Thyroid Function and Autoimmunity among COVID-19 Survivors
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