896 results on '"Scaria, Vinod"'
Search Results
2. Transmethylation and Oxidative Biomarkers in Children with Autism Spectrum Disorder: A Cross Sectional Study
3. Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing
4. Understanding the variant landscape, and genetic epidemiology of Multiple Endocrine Neoplasia in India
5. Forward genetic screen using a gene-breaking trap approach identifies a novel role of grin2bb-associated RNA transcript (grin2bbART) in zebrafish heart function.
6. Development of pathophysiologically relevant models of sickle cell disease and β-thalassemia for therapeutic studies
7. Impact of COVID-19 outbreak on healthcare workers in a Tertiary Healthcare Center in India: a cross sectional study
8. Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort
9. Spectrum of rare and common mitochondrial DNA variations from 1029 whole genomes of self-declared healthy individuals from India
10. Syntenic lncRNA locus exhibits DNA regulatory functions with sequence evolution
11. Alzheimer’s Disease-Associated APOE ε4 Frequencies in Indian Population Genomes May Suggest Implications in Lecanemab Treatment
12. In silico genotyping of blood group alleles using WGS data: a comparative study of the Orang Asli in Peninsular Malaysia with major global populations
13. Whole-genome sequencing of 1029 Indian individuals reveals unique and rare structural variants
14. Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortality
15. Genetic epidemiology of monogenic dyslipidemia and statin-associated adverse drug phenotypes in Indian population from whole-genomes of 1029 self-declared healthy individuals
16. Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations
17. Systematic In-Silico Evaluation of the Diagnostic Impact of Mpox Genome Variants in the Current Outbreak
18. BRCAIndica: a resource for ACMG/AMP classified BRCA1 and BRCA2 variants
19. Maternal-Periconceptional Vitamin B12 Deficiency in Wistar Rats Leads to Sex-Specific Programming for Cardiometabolic Disease Risk in the Next Generation
20. The genome sequence of lumpy skin disease virus from an outbreak in India suggests a distinct lineage of the virus
21. Pharmacogenomic analysis of a genetically distinct Indigenous population
22. Immunological consequences of compromised ocular immune privilege accelerate retinal degeneration in retinitis pigmentosa
23. Whole exome sequencing of pediatric leukemia reveals a novel InDel within FLT-3 gene in AML patient from Mizo tribal population, Northeast India
24. 1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants
25. Effectiveness of ChAdOx1 nCoV-19 vaccine against SARS-CoV-2 infection during the delta (B.1.617.2) variant surge in India: a test-negative, case-control study and a mechanistic study of post-vaccination immune responses
26. Clinical, immunological and genomic characteristics of children with X-linked agammaglobulinemia from Kerala, South India
27. Homozygous familial hypercholesterolemia with xanthomas and a recurrent mutation
28. Syntenic lncRNAs exhibit DNA regulatory functions with sequence evolution
29. BRCAIndica: a Resource for ACMG/AMP classified BRCA1 and BRCA2 Variants
30. Forward genetic screen using a gene-breaking trap approach identifies a novel role of grin2bb-associated RNA transcript (grin2bbART) in zebrafish heart function
31. Landscape of pharmacogenetic variants associated with non-insulin antidiabetic drugs in the Indian population
32. Genome and transcriptome analysis of the mealybug Maconellicoccus hirsutus: Correlation with its unique phenotypes
33. Understanding genetic epidemiology and population disparities of inherited blood cancer syndromes from integrative analysis of population genomics datasets
34. A Rapid and Scalable Multiplex PCR-Based Next-Generation Amplicon Sequencing Method for Familial Hypercholesterolemia Genetic Screening
35. ATP7A Clinical Genetics Resource – A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene
36. The genomic landscape of CYP2D6 variation in the Indian population
37. Molecular basis of DEL phenotype in the Indian population: Insights from next-generation sequencing analysis of two cases
38. Scalable noninvasive amplicon-based precision sequencing (SNAPseq) for genetic diagnosis and screening of β-thalassemia and sickle cell disease using a next-generation sequencing platform
39. Genetic epidemiology of monogenic dyslipidemia and statin-associated adverse drug phenotypes in Indian population from whole-genomes of 1029 self-declared healthy individuals
40. Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes
41. Maternal vitamin B12 deficiency in rats alters DNA methylation in metabolically important genes in their offspring
42. Founder variants and population genomes—Toward precision medicine
43. Genome-Wide Computational Analysis and Validation of Potential Long Noncoding RNA-Mediated DNA–DNA–RNA Triplexes in the Human Genome
44. Systematic transcriptome wide analysis of lncRNA-miRNA interactions
45. LncRNA VEAL2 regulates PRKCB2 to modulate endothelial permeability in diabetic retinopathy
46. WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.
47. A comprehensive characterization of blood group antigen variants in the Middle Eastern population genomes - Insights into genetic epidemiology
48. Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations
49. Molecular analysis and transfusion management in a rare case of cis-AB blood group: A report from India
50. Landscape of blood group antigens and alleles in the Indian population from whole genome sequences
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