215 results on '"O'Keefe, Raymond T"'
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2. Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype
3. Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54
4. Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype
5. New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder
6. MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease
7. Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts
8. Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney
9. Structural determination of oleanane-28,13β-olide and taraxerane-28,14β-olide fluorolactonization products from the reaction of oleanolic acid with SelectfluorTM.
10. Structural determination of oleanane-28,13β-olide and taraxerane-28,14β-olide fluorolactonization products from the reaction of oleanolic acid with Selectfluor™.
11. A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families
12. Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype
13. Gene Cloning for the Analysis of Gene Expression
14. Advanced Methods for the Analysis of Altered Pre-mRNA Splicing in Yeast and Disease
15. Cellular Surveillance: DNA-Based Recording to Monitor and Memorize Biological Events
16. Eisosome disruption by noncoding RNA deletion increases protein secretion in yeast
17. Homozygous missense variants in BMPR15 can result in primary ovarian insufficiency
18. Saccharomyces cerevisiae NineTeen Complex (NTC)-associated Factor Bud31/Ycr063w Assembles on Precatalytic Spliceosomes and Improves First and Second Step Pre-mRNA Splicing Efficiency
19. Bi-allelic FRA10AC1 variants in a multisystem human syndrome
20. Novel homozygous variants in PRORPexpand the genotypic spectrum of combined oxidative phosphorylation deficiency 54
21. Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
22. Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency
23. Global mapping of RNA homodimers in living cells
24. Genome-wide analysis of the non-coding RNA synthetic genetic network reveals extensive plasticity and unique phenotypes in yeast
25. Disruption of Pre-mRNA Splicing in Vivo Results in Reorganization of Splicing Factors
26. Dynamic Organization of DNA Replication in Mammalian Cell Nuclei: Spatially and Temporally Defined Replication of Chromosome-Specific α-Satellite DNA Sequences
27. Analysis of synthetic lethality reveals genetic interactions between the GTPase Snu114p and snRNAs in the catalytic core of the Saccharomyces cerevisiae spliceosome
28. New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder
29. Mutation in the U2 snRNA influences exon interactions of U5 snRNA loop 1 during pre‐mRNA splicing
30. Analysis of pre-mRNA and pre-rRNA processing factor Snu13p structure and mutants
31. Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in Three Patients with Hypertrophic Cardiomyopathy
32. The role of splicing factors in retinitis pigmentosa: links to cilia
33. Splint Ligation of RNA with T4 DNA Ligase
34. Comparison of in Silico Strategies to Prioritize Rare Genomic Variants Impacting RNA Splicing for the Diagnosis of Genomic Disorders
35. The Role of the U5 snRNP in Genetic Disorders and Cancer
36. Functional and transcriptional profiling of non-coding RNAs in yeast reveal context-dependent phenotypes and in trans effects on the protein regulatory network
37. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
38. Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells
39. Assessment of disease-associated missense variants in RYR2 on transcript splicing
40. EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type
41. Functional and transcriptional profiling of non-coding RNAs in yeast reveal context-dependent phenotypes and widespread in trans effects on the protein regulatory network
42. Functional analysis of the U5 snRNA loop 1 in the second catalytic step of yeast pre‐mRNA splicing
43. Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts
44. The invariant U5 snRNA loop 1 sequence is dispensable for the first catalytic step of pre-mRNA splicing in yeast
45. Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome.
46. Mutations in U5 snRNA loop 1 influence the splicing of different genes in vivo
47. Dynamic organization of DNA replication in mammalian cell nuclei: spatially and temporally defined replication of chromosome-specific alpha-satellite DNA sequences
48. Advanced Methods for the Analysis of Altered Pre-mRNA Splicing in Yeast and Disease
49. Novel intramolecular base-pairing of the U8 snoRNA underlies a Mendelian form of cerebral small vessel disease
50. A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families
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