162 results on '"Lezirovitz, Karina"'
Search Results
2. Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.
3. Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.
4. Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss
5. Genetic etiology of non-syndromic hearing loss in Latin America
6. Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss
7. Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants
8. Ca2+ binding to the C2E domain of otoferlin is required for hair cell exocytosis and hearing
9. Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans
10. Correction to: Genetic etiology of non-syndromic hearing loss in Latin America
11. Generation of four induced pluripotent stem cells lines from PBMC of the DFNA58 family members: Two hearing-impaired duplication carriers (USPi006-A e USPi007-A) and two normal-hearing noncarriers (USPi004-A and USPi005-A)
12. Ca2+ binding to the C2E domain of otoferlin is required for hair cell exocytosis and hearing.
13. Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.
14. Evidence of progenitor cells in the adult human cochlea: sphere formation and identification of ABCG2
15. Ca2+binding to the C2E domain of otoferlin is required for hair cell exocytosis and hearing
16. New Insights into the Identity of the DFNA58 Gene
17. Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss
18. Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects
19. Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family
20. Genetic etiology of non-syndromic hearing loss in Latin America
21. Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss
22. A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1–17p13.3
23. Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss
24. Is autosomal recessive deafness associated with oculocutaneous albinism a “coincidence syndrome”?
25. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
26. A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58
27. New Insights on the Effect of TNF Alpha Blockade by Gene Silencing in Noise-Induced Hearing Loss
28. Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate Genes
29. A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects
30. 7q36 deletion and 9p22 duplication: effects of a double imbalance
31. Retention of progenitor cell phenotype in otospheres from guinea pig and mouse cochlea
32. Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25
33. Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans
34. Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing
35. Polyethylene Glycol fusion associated with anti‐oxidants: A new promise in the treatment of traumatic paralysis
36. Polyethylene glycol fusion associated with antioxidants: A new promise in the treatment of traumatic facial paralysis
37. Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family
38. Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3Avariant associated with autosomal dominant hearing loss
39. Further evidence for loss-of-function mutations in the CEACAM16gene causing nonsyndromic autosomal recessive hearing loss in humans
40. HES-1 and COUP-TFI shRNA Knocking Down Give Rises to New Hair Cells and Supporting Cells in Organ of Corti Organotypic Culture
41. fosI Is a New Integron-Associated Gene Cassette Encoding Reduced Susceptibility to Fosfomycin
42. Novel partial duplication ofEYA1causes branchiootic syndrome in a large Brazilian family
43. Study of a Brazilian family presenting non-syndromic hearing loss with mitochondrial inheritance
44. c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family
45. HES-1 and COUP-TFI shRNA Knocking Down Give Rises to New Hair Cells and Supporting Cells in Organ of Corti Organotypic Culture
46. Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominant deafness in a Brazilian family
47. Duplications ofBHLHA9are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
48. Viable, Proliferating Progenitor Cells
49. Retention of progenitor cell phenotype in otospheres from guinea pig and mouse cochlea
50. Novel OTOF mutations in Brazilian patients with auditory neuropathy
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