207 results on '"Fung, Cheuk Wing"'
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2. “Using dried blood spots beyond newborn screening – is Hong Kong ready?”: navigating the intersection of innovation readiness, privacy concerns, and Chinese parenting culture
3. Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape
4. Quality of life and symptom burden in children with neurodegenerative diseases: using PedsQL and SProND, a new symptom-based scale
5. The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency
6. Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey
7. Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism
8. CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers
9. Exome sequencing in paediatric patients with movement disorders
10. A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35
11. Importance of parental involvement in paediatric palliative care in Hong Kong: qualitative case study
12. Neurocognitive function, performance status, and quality of life in pediatric intracranial germ cell tumor survivors
13. Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong
14. Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
15. O25: Bridging the neurodevelopmental diagnostic gap: A comprehensive multi-omics approach for transcriptomics and proteomics outliers with exome reanalysis
16. Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape
17. Importance of parental involvement in paediatric palliative care in Hong Kong: qualitative case study
18. Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
19. Neuroimaging in Primary Coenzyme-Q10-Deficiency Disorders
20. Additional file 1 of Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape
21. Mitochondrial Diseases in Hong Kong: Prevalence, Clinical characteristics and Genetic landscape
22. Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey
23. International Paediatric Mitochondrial Disease Scale
24. Mitochondrial disorders in children: toward development of small‐molecule treatment strategies
25. Review of evolution of clinical, training and educational services and research program for autism spectrum disorders in Hong Kong
26. Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug
27. Clinical Characteristics and Outcomes of Acute Childhood Encephalopathy in a Tertiary Pediatric Intensive Care Unit
28. Neuroimaging in Primary Coenzyme-Q 10 -Deficiency Disorders.
29. High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome – Possible relationship with the disease outcomes
30. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
31. Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry
32. Exome sequencing in paediatric patients with movement disorders
33. Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry
34. Human d ‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency
35. Computerized attention training for visually impaired older adults with dementia: a case study
36. Nephrological abnormalities in patients with transaldolase deficiency
37. Computerized attention training for visually impaired older adults with dementia: a case study
38. Exome Sequencing in Paediatric Patients with Movement Disorders with Treatment Possibilities
39. Delineation of molecular findings by whole exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
40. Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs
41. The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes
42. ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV
43. Video-fluoroscopic study of swallowing in children with neurodevelopmental disorders
44. Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency.
45. ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV
46. The epileptology of GNB5 encephalopathy
47. A fatal case of COQ7 ‐associated primary coenzyme Q 10 deficiency
48. Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area
49. Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy
50. Neurocognitive function, performance status, and quality of life in pediatric intracranial germ cell tumor survivors
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