128 results on '"Badii, Ramin"'
Search Results
2. Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank
3. Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population
4. The Qatar Genome: A Population-Specific Tool for Precision Medicine in the Middle East
5. Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study
6. Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population
7. The QChip1 knowledgebase and microarray for precision medicine in Qatar
8. Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families
9. P026: The genetic spectrum of treatable inherited metabolic disorders identified in a large Middle Eastern biobank
10. Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk
11. Increased Rate of Deleterious Variants in Long Runs of Homozygosity of an Inbred Population from Qatar
12. Consanguinity and Hereditary Hearing Loss in Qatar
13. Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank
14. Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study
15. Additional file 1 of Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population
16. The p.Cys169Tyr variant of connexin 26 is not a polymorphism
17. Lack of association between the Pro12Ala polymorphism of the PPAR-γ2 gene and type 2 diabetes mellitus in the Qatari consanguineous population
18. Exome Sequencing Identifies Potential Risk Variants for Mendelian Disorders at High Prevalence in Qatar
19. Direct measurement of the pKa of aspartic acid 26 in Lactobacillus casei dihydrofolate reductase: implications for the catalytic mechanism
20. A Common Mutation in the CBS Gene Explains a High Incidence of Homocystinuria in the Qatari Population
21. Actionable genomic variants in 6045 participants from the Qatar Genome Program.
22. Structural consequences of site-directed mutagenesis in flexible protein domains: NMR characterization of the L(55,56)S mutant of RhoGDI
23. Discovering novel biochemical and genetic markers for coronary heart disease in Qatari individuals: The initiative Qatar cardiovascular biorepository
24. Structure-activity relationships in flexible protein domains: regulation of rho GTPases by RhoGDI and D4 GDI
25. Mapping the binding site for the GTP-binding protein Rac-1 on its inhibitor RhoGDI-1
26. Exome sequencing-based identification of novel type 2 diabetes risk allele loci in the Qatari population
27. Most Common Genetic Mutations of Alpha Thalassemia Among Qatari Pediatric Population
28. Discovering Novel Biochemical and Genetic Markers for Coronary Heart Disease in Qatari Individuals: The Initiative Qatar Cardiovascular Biorepository.
29. Correction: Type 2 Diabetes Risk Allele Loci in the Qatari Population
30. Type 2 Diabetes Risk Allele Loci in the Qatari Population
31. The Qatar genome: a population-specific tool for precision medicine in the Middle East
32. Indigenous Arabs are descendants of the earliest split from ancient Eurasian populations
33. The Molecular Basis of Alpha-Thalassemia in the Qatari Pediatric Population
34. Targeted Next-Generation Sequencing for Molecular Diagnosis of Non-Syndromic Hearing Loss in Qatar
35. Genetic testing and genomic analysis: a debate on ethical, social and legal issues in the Arab world with a focus on Qatar
36. The Molecular Basis ofα-Thalassemia in the Qatari Pediatric Population
37. Molecular Basis of α-Thalassemia in Qatari Pediatric Population
38. New Hereditary Hearing Loss (hhl) Genes/mutations Identified By High Throughput Technologies In The Qatari Population
39. Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss
40. Exome Sequencing Identifies Potential Risk Variants for Mendelian Disorders at High Prevalence in Qatar
41. Neuronal Ceroid Lipofuscinosis in Qatar: Report of a Novel Mutation in Ceroid-Lipofuscinosis, Neuronal 5 in the Arab Population
42. Mutations inGJB2, GJB6and mDNA 1555A>G variant explain only a minority of cases of nonsyndromic hearing loss in the Qatari population
43. The role of V Leiden, prothrombin G20210A and C677T MTHFR mutations as risk factors for venous thrombosis and recurrent pregnancy loss
44. Lack of association between the Pro12Ala polymorphism of the PPAR-γ2 gene and type 2 diabetes mellitus in the Qatari consanguineous population
45. Genetic testing and genomic analysis: a debate on ethical, social and legal issues in the Arab world with a focus on Qatar.
46. The Molecular Basis of α -Thalassemia in the Qatari Pediatric Population.
47. A common mutation in theCBSgene explains a high incidence of homocystinuria in the Qatari population
48. Bacterial expression and spectroscopic characterization of soybean leghaemoglobin a
49. A modulator of rho family G proteins, rhoGDI, binds these G proteins via an immunoglobulin-like domain and a flexible N-terminal arm
50. Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss.
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