179 results on '"Mansukhani, Mahesh"'
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2. Validation of the VirCapSeq-VERT system for differential diagnosis, detection, and surveillance of viral infections
3. Evaluation of a Zoonotic Orthopoxvirus PCR Assay for the Detection of Mpox Virus Infection
4. Current Clinical Practices and Challenges in Molecular Testing: A GOAL Consortium Hematopathology Working Group Report
5. Supplementary Figure 1 from PIK3CA Mutations Correlate with Hormone Receptors, Node Metastasis, and ERBB2, and Are Mutually Exclusive with PTEN Loss in Human Breast Carcinoma
6. Supplementary Figure 2 from PIK3CA Mutations Correlate with Hormone Receptors, Node Metastasis, and ERBB2, and Are Mutually Exclusive with PTEN Loss in Human Breast Carcinoma
7. Supplementary Figure 2 from PIK3CA Mutations Correlate with Hormone Receptors, Node Metastasis, and ERBB2, and Are Mutually Exclusive with PTEN Loss in Human Breast Carcinoma
8. Supplementary Material from PIK3CA Mutations Correlate with Hormone Receptors, Node Metastasis, and ERBB2, and Are Mutually Exclusive with PTEN Loss in Human Breast Carcinoma
9. Supplementary Figure 1 from PIK3CA Mutations Correlate with Hormone Receptors, Node Metastasis, and ERBB2, and Are Mutually Exclusive with PTEN Loss in Human Breast Carcinoma
10. Papillary Intralymphatic Angioendothelioma in a Child With PIK3CA-Related Overgrowth Spectrum: Implication of PI3K Pathway in the Vascular Tumorigenesis
11. Next Generation Sequencing Identifies Light-Chain Amyloid (AL)-Related Igvl Genes in Patients with λ Monoclonal Gammopathy of Undetermined Significance (MGUS) or Smoldering Multiple Myeloma (SMM)
12. The Clusterin/Von Willebrand Factor Ratio Is Significantly Lower in Marrow Plasma from AL λ-Type Than from λ-Isotype Monoclonal Gammopathy Patients
13. Quality metrics for enhanced performance of an NGS panel using single-vial amplification technology
14. Benchmarking bioinformatics approaches for tumour mutational burden evaluation from a large cancer panel against whole-exome sequencing
15. Pineal region ganglioglioma: A neoplasm with a bimodal age distribution
16. Clinical exome sequencing for inherited retinal degenerations at a tertiary care center
17. Pan-tumor screening for NTRK gene fusions using pan-TRK immunohistochemistry and RNA NGS fusion panel testing
18. Clinical Exome Sequencing for Inherited Retinal Disorders at a Tertiary Care Center
19. Investigation of discrepant mismatch repair immunohistochemistry and microsatellite instability polymerase chain reaction test results for gynecologic cancers using next-generation sequencing
20. Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion
21. ALK Gene Rearrangements in Lung Adenocarcinomas: Concordance of Immunohistochemistry, Fluorescence In Situ Hybridization, RNA In Situ Hybridization, and RNA Next-Generation Sequencing Testing
22. Rosette-Forming Glioneuronal Tumor in the Pineal Region: A Series of 6 Cases and Literature Review
23. Field-deployable, rapid diagnostic testing of saliva for SARS-CoV-2
24. Immunophenotypic Spectrum and Genomic Landscape of Refractory Celiac Disease Type II
25. Direct diagnostic testing of SARS-CoV-2 without the need for prior RNA extraction
26. Phenogenomic heterogeneity of post-transplant plasmablastic lymphomas
27. LGG-22. EVALUATION OF IMMUNE AND GENOMIC CHARACTERISTICS IN PEDIATRIC OPTIC NERVE GLIOMA (ONG)
28. Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency
29. Clinical Utilization, Utility, and Reimbursement for Expanded Genomic Panel Testing in Adult Oncology
30. Spontaneous Regression and Complete Response to Immune Checkpoint Blockade in a Case of High-Grade Neuroendocrine Carcinoma
31. Assay Complementarity to Overcome False-Negative Testing for Microsatellite Instability/Mismatch Repair Deficiency: A Pembrolizumab-Sensitive Intimal Sarcoma
32. Predictive testing for neurodegenerative diseases in the age of next‐generation sequencing
33. Diffuse midline glioma with novel, potentially targetable, FGFR2–VPS35 fusion
34. Abstract 171: Genomic and phenotypic analysis of post-transplant plasmablastic lymphomas
35. Key considerations for comprehensive validation of an RNA fusion NGS panel
36. Field-deployable, rapid diagnostic testing of saliva samples for SARS-CoV-2
37. Direct diagnostic testing of SARS-CoV-2 without the need for prior RNA extraction
38. 6. Multiplexed-PCR based next generation sequencing assay for diagnosis of bladder carcinoma in urine specimens
39. 62. Ph+ ALL: Clonal evolution with ABL1 KD and SETD2 variants
40. Efficacy of DNA versus RNA NGS-based Methods in MET Exon 14 skipping mutation detection.
41. Refractory celiac disease type II: An atypical case highlighting limitations of the current classification system
42. Multi-Institutional Evaluation of Interrater Agreement of Variant Classification Based on the 2017 Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer
43. SETD2 Mutation in an Aggressive Optic Nerve Glioma
44. Malignant Rhabdoid Tumor, an Aggressive Tumor Often Misclassified as Small Cell Variant of Hepatoblastoma
45. Pathway analysis of genomic pathology tests for prognostic cancer subtyping
46. Genetic and phenotypic characterization of indolent T-cell lymphoproliferative disorders of the gastrointestinal tract
47. Microsatellite instability detection using a large next-generation sequencing cancer panel across diverse tumour types
48. Utility of en-face imaging in diagnosis of occult macular dystrophy with RP1L1 mutation: A case series
49. Cytogenetic analysis of 130 renal oncocytomas identify three distinct and mutually exclusive diagnostic classes of chromosome aberrations
50. Targeting SLMAP-ALK—a novel gene fusion in lung adenocarcinoma
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