97 results on '"Wong, Lee‐Jun"'
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2. Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood
3. Interpretation of mitochondrial tRNA variants
4. Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction
5. The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother
6. Mitochondrial inheritance and cancer
7. FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
8. Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect
9. Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome
10. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing
11. Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion
12. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
13. P722: Low-level large deletions in mitochondria genomes: A potential diagnosis of mitochondrial diseases
14. Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing
15. Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations
16. Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types
17. Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing
18. Fatty Acid Oxidation-Driven Src Links Mitochondrial Energy Reprogramming and Oncogenic Properties in Triple-Negative Breast Cancer
19. Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism
20. Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma
21. Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide
22. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States
23. A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2
24. Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities
25. Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing
26. Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene
27. Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing
28. Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
29. Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance
30. Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene
31. Diagnosis of mitochondrial myopathies
32. Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes
33. Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders
34. Challenges of Bringing Next Generation Sequencing Technologies to Clinical Molecular Diagnostic Laboratories
35. Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin
36. Diagnostic approaches to apparent homozygosity
37. Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening
38. Targeted array CGH as a valuable molecular diagnostic approach: Experience in the diagnosis of mitochondrial and metabolic disorders
39. Ablation of Steroid Receptor Coactivator-3 Resembles the Human CACT Metabolic Myopathy
40. Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation
41. Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine
42. Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans
43. Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations
44. Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis
45. Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis
46. Utilization of targeted array comparative genomic hybridization, MitoMet®, in prenatal diagnosis of metabolic disorders
47. Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation
48. Dilation of the aortic root in mitochondrial disease patients
49. Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: A mitochondrial DNA depletion disorder
50. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations
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