127 results on '"Lam, Ching Wan"'
Search Results
2. Allan-Herndon-Dudley syndrome in Hong Kong: Implication for newborn screening
3. Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome
4. Unmasking a novel disease gene NEO1 associated with autism spectrum disorders by a hemizygous deletion on chromosome 15 and a functional polymorphism
5. Quantitative metabolomics of urine for rapid etiological diagnosis of urinary tract infection: Evaluation of a microbial–mammalian co-metabolite as a diagnostic biomarker
6. A missense variant in SLC12A3 gene enhances aberrant splicing causing Gitelman syndrome
7. NMR-based metabolomic urinalysis: A rapid screening test for urinary tract infection
8. PrimeIndel: Four-prime-number genetic code for indel decryption and sequence read alignment
9. X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation
10. Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency
11. Allele dropout caused by a non-primer-site SNV affecting PCR amplification — A call for next-generation primer design algorithm
12. Nuclear magnetic resonance spectroscopy-based urinalysis for a young girl with extreme hypoglycaemia
13. Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study
14. 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
15. A fast modified protocol for random-access ultra-high density whole-genome scan: A tool for personalized genomic medicine, positional mapping, and cytogenetic analysis
16. Diagnosis and spectrum of melamine-related renal disease: Plausible mechanism of stone formation in humans
17. A universal algorithm for de novo decrypting of heterozygous indel sequences: A tool for personalized medicine
18. Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient
19. Rapid diagnosis of Wilson disease by a 28-mutation panel: Real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure
20. C-terminal truncated SPOP, a Janus-faced variant, causing a mixed type 1 and type 2 Nabais Sa-de Vries syndrome.
21. Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome
22. Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia
23. DNA-based diagnosis of thyroid hormone resistance syndrome: A novel THRB mutation associated with mild resistance to thyroid hormone
24. Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity
25. Diagnostic value of pleural fluid adenosine deaminase activity in tuberculous pleurisy
26. Optimal pooling strategy for liquid chromatography-high resolution mass spectrometry (LC-HR-MS) urine drug screening
27. Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area
28. MECP2 mutation in male patients with non-specific X-linked mental retardation
29. Centrosome-associated CDC25B is a novel disease-causing gene for a syndrome with cataracts, dilated cardiomyopathy, and multiple endocrinopathies.
30. Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria
31. Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c
32. Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype
33. Urine Organic Acid (UOA) Analysis for the diagnosis of Aromatic L-Amino Acid Decarboxylase (AADC) deficiency
34. ‘Silver man’ – A first case report of silver associated steatohepatitis (SASH) and discussion of its pathomechanism
35. Mutational analysis for Wilson's disease
36. Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke
37. NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome
38. NMR-based urinalysis for beta-ketothiolase deficiency
39. Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy
40. A common COQ4 mutation in undiagnosed mitochondrial disease: a local case series
41. Cross reactivity between fibrinogen and epsilon heavy chain antiserum in immunofixation electrophoresis
42. Circulating fluorocytes at the first attack of acute intermittent porphyria: A missing link in the pathogenesis
43. Global developmental delay and intellectual disability associated with a de novo TOP2B mutation
44. Ending a 40-year-diagnostic odyssey by clinical whole exome sequencing for a treatable neurological disease
45. Urine ‘total triglyceride’ for diagnosis of a rare cause of hypoglycemia: a novel, rapid and simple test
46. Pleural fluid total free fatty acids as cancer biomarkers in malignant pleural effusions: a preliminary study
47. The first territory-wide expanded newborn screening for inborn errors of metabolism in Hong Kong: a pilot study
48. Glycogen Storage Disease Type Ib: The First Case in Taiwan
49. DNA-based diagnosis of erythropoietic protoporphyria in two families and the frequency of a low-expression FECH allele in a Chinese population
50. Novel large deletion in AVPR2 gene causing copy number variation in a patient with X-linked nephrogenic diabetes insipidus
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