22 results on '"Santibanez-Koref, Mauro"'
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2. Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1
3. Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission
4. Using MRI to predict future adverse cardiac remodelling in a male mouse model of myocardial infarction
5. Circular RNA enrichment in platelets is a signature of transcriptome degradation
6. Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
7. Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations
8. Bayesian inference supports a location and neighbour-dependent model of DNA methylation propagation at the MGMT gene promoter in lung tumours
9. Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT
10. Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease
11. Atl1 Regulates Choice between Global Genome and Transcription-Coupled Repair of O6-Alkylguanines
12. Interactions between nuclear and mitochondrial SNPs and Parkinson’s disease risk
13. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency
14. Alkyltransferase-like proteins
15. Lung cancer risk and variation in MGMT activity and sequence
16. Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution
17. Evidence for Widespread Reticulate Evolution within Human Duplicons
18. Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
19. O-44 Dual-channel tumour/normal expression profiles of resected, chemotherapy-treated, non-small cell lung cancers (NSCLC) compared to not-treated NSCLC pairs show patterns closer to normal lung tissue than the untreated tumours
20. The expression of aphidicolin-induced fragile sites in familial breast cancer patients
21. Physical Mapping of 43 STSs to Human Chromosome 6
22. Chromosome band 1p13 is most frequently involved in structural rearrangements in human breast tumours.
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