212 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. Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape
5. A prospective follow-up on thyroid function, thyroid autoimmunity and long COVID among 250 COVID-19 survivors
6. Allan-Herndon-Dudley syndrome in Hong Kong: Implication for newborn screening
7. Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)
8. Long COVID in Patients With Mild to Moderate Disease: Do Thyroid Function and Autoimmunity Play a Role?
9. Higher SARS-CoV-2 viral loads correlated with smaller thyroid volumes on ultrasound among male COVID-19 survivors
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. A missense variant in SLC12A3 gene enhances aberrant splicing causing Gitelman syndrome
19. Additional file 1 of Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape
20. Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong
21. Mitochondrial Diseases in Hong Kong: Prevalence, Clinical characteristics and Genetic landscape
22. Nuclear magnetic resonance spectroscopy-based urinalysis for a young girl with extreme hypoglycaemia
23. Novel finding of lissencephaly and severe osteopenia in a Chinese patient withSATB2‐associated syndrome and a brief review of literature
24. Optimal pooling strategy for liquid chromatography-high resolution mass spectrometry (LC-HR-MS) urine drug screening
25. An Unsupervised Machine Learning Clustering and Prediction of Differential Clinical Phenotypes of COVID-19 Patients Based on Blood Tests—A Hong Kong Population Study
26. The Independent Association of TSH and Free Triiodothyronine Levels With Lymphocyte Counts Among COVID-19 Patients
27. The Impact of Interferon Beta-1b Therapy on Thyroid Function and Autoimmunity Among COVID-19 Survivors
28. Insights from a Prospective Follow-up of Thyroid Function and Autoimmunity among COVID-19 Survivors
29. C-terminal truncated SPOP, a Janus-faced variant, causing a mixed type 1 and type 2 Nabais Sa-de Vries syndrome.
30. Serum ceruloplasmin monitoring in a case of silver intoxication due to intravenous silver infusion
31. Insights From Prospective Follow-up of Thyroid Function and Autoimmunity Among Covid-19 Survivors
32. Role of non‐thyroidal illness syndrome in predicting adverse outcomes in COVID‐19 patients predominantly of mild‐to‐moderate severity
33. Novel finding of lissencephaly and severe osteopenia in a Chinese patient with SATB2‐associated syndrome and a brief review of literature.
34. Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria
35. Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype
36. Thyroid Dysfunction in Relation to Immune Profile, Disease Status, and Outcome in 191 Patients with COVID-19
37. Centrosome-associated CDC25B is a novel disease-causing gene for a syndrome with cataracts, dilated cardiomyopathy, and multiple endocrinopathies
38. Myofibrillar Myopathy 5: Clinical, Morphological and Genetic Studies of a Cohort of Chinese Patients with Novel Pathogenic FLNC Nonsense Mutation (3944)
39. SUN-021 Age-Specific Multiples of the Median Level of Serum Anti-Mullerian Hormone Is a Potential Marker for Diagnosis of Polycystic Ovary Syndrome
40. Serum ceruloplasmin monitoring in a case of silver intoxication due to intravenous silver infusion.
41. Clinical and pathological characterization ofFLNC‐related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese
42. Urine Organic Acid (UOA) Analysis for the diagnosis of Aromatic L-Amino Acid Decarboxylase (AADC) deficiency
43. ‘Silver man’ – A first case report of silver associated steatohepatitis (SASH) and discussion of its pathomechanism
44. Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy
45. Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy
46. Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)
47. Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area
48. DPYD genotype-guided dose individualisation of fluoropyrimidine therapy: who and how?
49. A common COQ4 mutation in undiagnosed mitochondrial disease: a local case series
50. Plasmonic gold nanoparticles as multifaceted probe for tissue imaging
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