217 results on '"Moreno-Pelayo, Miguel"'
Search Results
2. Genetic etiology of non-syndromic hearing loss in Europe
3. Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.
4. Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying humanMIR96mutations
5. Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype
6. Selective miRNA Modulation Fails to Activate HIV Replication in In Vitro Latency Models
7. Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse
8. Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants
9. Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment
10. Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides
11. Search for new genes, molecular mechanisms and diagnostic tools in postlingual hereditary hearing loss
12. Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy
13. Evolution of CRISPR-associated endonucleases as inferred from resurrected proteins
14. Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects.
15. Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy
16. Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders
17. Actin Mutations and Deafness
18. Selective miRNA inhibition in CD8+ cytotoxic T lymphocytes enhances HIV-1 specific cytotoxic responses
19. Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder
20. CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts
21. Evolution of CRISPR-associated Endonucleases as Inferred from Resurrected Proteins
22. Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder
23. Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247
24. Therapeutic Potential of EWSR1–FLI1 Inactivation by CRISPR/Cas9 in Ewing Sarcoma
25. CSVS, a crowdsourcing database of the Spanish population genetic variability
26. MicroRNAs and Hereditary Disorders
27. A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ-Tγδ+B+NK+ human SCID
28. Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies
29. Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane
30. Characterization of a Spontaneous, Recessive, Missense Mutation Arising in the Tecta Gene
31. A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family
32. A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression
33. CSVS, a crowdsourcing database of the Spanish population genetic variability
34. A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss
35. Simple Protocol for Generating and Genotyping Genome-Edited Mice With CRISPR-Cas9 Reagents
36. A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28–29
37. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study
38. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
39. DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss
40. Simple Protocol for Generating and Genotyping Genome‐Edited Mice With CRISPR‐Cas9 Reagents
41. Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
42. Correction: ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs
43. ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs
44. Genetic and Phenotypic Heterogeneity in Two Novel Cases of Waardenburg Syndrome Type IV
45. In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment
46. A Multicenter Study on the Prevalence and Spectrum of Mutations in the Otoferlin Gene (OTOF) in Subjects With Nonsyndromic Hearing Impairment and Auditory Neuropathy
47. A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV
48. MOESM1 of Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders
49. Generacion y caracterizacion de nuevos modelos celulares asociados al deficit neural en IGF-1
50. Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.