364 results on '"Santibanez-Koref, Mauro"'
Search Results
2. Early-stage idiopathic Parkinson’s disease is associated with reduced circular RNA expression
3. Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency
4. An essential role for the Zn2+ transporter ZIP7 in B cell development
5. Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1
6. Feasibility and impact of haplogroup matching for mitochondrial replacement treatment
7. Parkinson’s disease is associated with an imbalance in circular RNA expression
8. The influence of marker number and sequencing depth on the ability to identify mismatch repair deficient tumours.
9. Large-scale benchmarking of circRNA detection tools reveals large differences in sensitivity but not in precision
10. Circulating cell-free mitochondrial DNA levels in Parkinson’s disease are influenced by treatment
11. Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors
12. Large-scale benchmarking of circRNA detection tools reveals large differences in sensitivity but not in precision
13. Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors
14. Using MRI to predict future adverse cardiac remodelling in a male mouse model of myocardial infarction
15. Circular RNA enrichment in platelets is a signature of transcriptome degradation
16. Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot
17. Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
18. Large-scale benchmarking of circRNA detection tools reveals large differences in sensitivity but not in precision
19. Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing
20. Is HLA type a possible cancer risk modifier in Lynch syndrome?
21. NDUFS8-related Complex I Deficiency Extends Phenotype from 'PEO Plus' to Leigh Syndrome
22. Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia
23. Is HLA type a possible cancer risk modifier in Lynch syndrome?
24. Detection of Microsatellite Instability in Colonoscopic Biopsies and Postal Urine Samples from Lynch Syndrome Cancer Patients Using a Multiplex PCR Assay
25. Is HLA type a possible cancer risk modifier in Lynch syndrome?
26. Mismatch repair deficiency testing in Lynch syndromeassociated urothelial tumors.
27. Analysis of human ES cell differentiation establishes that the dominant isoforms of the lncRNAs RMST and FIRRE are circular
28. Response to ‘Cutaneous squamous cell carcinoma is associated with Lynch syndrome: widening the spectrum of Lynch syndrome‐associated tumours’
29. Interactions between nuclear and mitochondrial SNPs and Parkinson’s disease risk
30. Interactions between nuclear and mitochondrial SNPs and Parkinson's disease risk
31. Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia.
32. Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission
33. Exome sequencing in undiagnosed inherited and sporadic ataxias
34. Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
35. YIA4 Genetic Risk Markers for Atrial Fibrillation Influence Allelic Expression of Nearby Candidate Genes
36. Flipping of alkylated DNA damage bridges base and nucleotide excision repair
37. A de novo paradigm for male infertility
38. Alkyltransferase-like proteins
39. Lung cancer risk and variation in MGMT activity and sequence
40. How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies
41. Evidence for widespread reticulate evolution within human duplicons
42. The Human Coronavirus Receptor ANPEP (CD13) Is Overexpressed in Parkinson's Disease
43. NDUFS8-related Complex I Deficiency Extends Phenotype from “PEO Plus” to Leigh Syndrome
44. Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation
45. Universal heteroplasmy of human mitochondrial DNA
46. O09 Microsatellite-unstable sporadic sebaceous and duodenal tumours are associated with loss of mismatch protein expression.
47. [O.sup.6]-alkylguanine-DNA alkyltransferase: role in carcinogenesis and chemotherapy. (Review articles)
48. Titin mutation segregates with hereditary myopathy with early respiratory failure
49. A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy
50. Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
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