36 results on '"Zhang, Victor Wei"'
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2. Clinical application of medical exome sequencing for prenatal diagnosis of fetal structural anomalies
3. Interpretation of mitochondrial tRNA variants
4. The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother
5. Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing
6. Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types
7. Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing
8. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States
9. A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2
10. Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing
11. Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing
12. Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene
13. Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes
14. Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin
15. B-lymphocyte deficiency and recurrent respiratory infections in a 6-month-old female infant with mosaic monosomy 7
16. De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism
17. eP483 - Simultaneous detection of copy number and single nucleotide variations improves diagnostic yield of fetuses with ultrasound anomalies and normal karyotypes
18. Response to Bai et al.
19. Correction: Interpretation of mitochondrial tRNA variants
20. Correction: Interpretation of mitochondrial tRNA variants
21. L1CAM mutations in three fetuses diagnosed by medical exome sequencing
22. Advantages of highly sensitive NGS based test to detect low levels of mtDNA mutations and large deletions
23. Identification of new FBXL4 patients with mitochondrial disorders
24. Detection of mosaic mutations by next generation sequencing in genetic diseases with any mode of inheritance
25. A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies
26. Improved diagnosis of mitochondrial disorders by next generation sequencing approach
27. Analysis of mtDNA multiple deletions in 209 muscle specimens using massively parallel sequencing (MPS)
28. Targeted massively parallel sequencing detects exonic copy number changes in patients with mitochondrial disorders
29. Enhanced detection sensitivity and diagnostic yield for mtDNA deletion syndrome by massively parallel sequencing
30. Lessons learned from the analyses of 1500 mitochondrial genomes by NGS
31. Diagnosis of diseases associated with mitochondrial DNA biosynthesis and maintenance of integrity by next generation sequencing
32. The molecular etiology of Progressive External Ophthalmoplegia (PEO) associated with mitochondrial myopathy
33. First tier molecular diagnosis of mitochondrial disorders — The experience of a mitochondrial diagnostic laboratory pre‐NextGen era
34. Implementation of next generation sequencing for clinical molecular diagnosis of mitochondrial disorders
35. An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory’s experience
36. In This Issue
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