42 results on '"Lezirovitz, Karina"'
Search Results
2. Ca2+ binding to the C2E domain of otoferlin is required for hair cell exocytosis and hearing
3. 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)
4. New Insights into the Identity of the DFNA58 Gene
5. Hearing aid effectiveness on patients with chronic tinnitus and associated hearing loss
6. Correction to: Genetic etiology of non-syndromic hearing loss in Latin America
7. Genetic etiology of non-syndromic hearing loss in Latin America
8. Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss
9. Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss
10. A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58
11. New Insights on the Effect of TNF Alpha Blockade by Gene Silencing in Noise-Induced Hearing Loss
12. Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans
13. Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing
14. Polyethylene Glycol fusion associated with anti‐oxidants: A new promise in the treatment of traumatic paralysis
15. Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss
16. Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects
17. Polyethylene glycol fusion associated with antioxidants: A new promise in the treatment of traumatic facial paralysis
18. Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family
19. Evidence of progenitor cells in the adult human cochlea: sphere formation and identification of ABCG2
20. fosI Is a New Integron-Associated Gene Cassette Encoding Reduced Susceptibility to Fosfomycin
21. Novel partial duplication ofEYA1causes branchiootic syndrome in a large Brazilian family
22. c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family
23. HES-1 and COUP-TFI shRNA Knocking Down Give Rises to New Hair Cells and Supporting Cells in Organ of Corti Organotypic Culture
24. 7q36 deletion and 9p22 duplication: effects of a double imbalance
25. Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominant deafness in a Brazilian family
26. Duplications ofBHLHA9are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
27. Viable, Proliferating Progenitor Cells
28. Retention of progenitor cell phenotype in otospheres from guinea pig and mouse cochlea
29. Novel OTOF mutations in Brazilian patients with auditory neuropathy
30. Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate Genes
31. Prevalence of GJB2 (Connexin-26) and GJB6 (Connexin-30) Mutations in a Cohort of 300 Brazilian Hearing-Impaired Individuals: Implications for Diagnosis and Genetic Counseling
32. A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects
33. Estudo de família brasileira portadora de deficiência auditiva sensorioneural não-sindrômica com herança mitocondrial
34. Study of a Brazilian Family Presenting Non-syndromic hearing loss with mitochondrial inheritance
35. Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25
36. A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1–17p13.3
37. Erratum: Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness
38. Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness
39. Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes
40. Is autosomal recessive deafness associated with oculocutaneous albinism a “coincidence syndrome”?
41. Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant
42. Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13
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