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Mostrando 681 - 700 Resultados de 1,763 Para Buscar '"Usher"', tiempo de consulta: 0.17s Limitar resultados
  1. 681
    “…Mutations in whirlin cause either Usher syndrome type II (USH2), a deafness-blindness disorder, or nonsyndromic deafness. …”
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    Ablation of Whirlin Long Isoform Disrupts the USH2 Protein Complex and Causes Vision and Hearing Loss
  2. 682
    “…We then tested the idea that the addition of a QS signal, and therefore induction of chaperone-usher secretion system genes, provides a greater benefit at higher biofilm densities. …”
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    Enhancing pili assembly and biofilm formation in Acinetobacter baumannii ATCC19606 using non-native acyl-homoserine lactones
  3. 683
    “…PURPOSE: To compare the choroidal thickness among eyes with retinitis pigmentosa (RP), Stargardt disease, Usher syndrome, cone-rod dystrophy, and healthy eyes of sex- and age-matched individuals. …”
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    Choroidal Thickness in Different Types of Inherited Retinal Dystrophies
  4. 684
    “…Pili assembled by the chaperone-usher pathway (CUP) require periplasmic chaperones that assist subunit folding, maintain their stability, and escort them to the site of bioassembly. …”
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    Structure of CfaA Suggests a New Family of Chaperones Essential for Assembly of Class 5 Fimbriae
  5. 685
    “…P pili are assembled by the conserved chaperone–usher pathway, which involves the PapD chaperone and the PapC usher. …”
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    Crystal Structure of the P Pilus Rod Subunit PapA
  6. 686
    “…An antisense oligonucleotide (ASO) was used to correct defective pre–mRNA splicing of transcripts from the mutated USH1C.216G>A gene, which causes human Usher syndrome (Usher), the leading genetic cause of combined deafness and blindness(6,7). …”
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    Rescue of hearing and vestibular function in a mouse model of human deafness
  7. 687
    “…MP optimization with UShER and matOptimize is thousands of times faster than presently available implementations of ML and online phylogenetics is faster than de novo inference. …”
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    Online Phylogenetics with matOptimize Produces Equivalent Trees and is Dramatically More Efficient for Large SARS-CoV-2 Phylogenies than de novo and Maximum-Likelihood Implementations
  8. 688
    Libro
    Doktor Zhivago /
  9. 689
    “…The High-Luminosity LHC (HL-LHC) will usher in a new era in high-energy physics. The HL-LHC experimental conditions entail an instantaneous luminosity of up to $7.5 \times 10^{34}$ cm$^{-2}$ s$^{-1}$ and up to 200 simultaneous collisions per bunch crossing (pileup). …”
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    The High-Level Trigger for the CMS Phase-2 Upgrade
  10. 690
    “…Furthermore, we highlighted the frequency of Usher syndrome type 2 carriers in the Italian population to pave the way for a more effective implementation of diagnostic and follow-up strategies for this disease.…”
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    The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population
  11. 691
    “…This study further emphasizes that mild forms of PBD can be a differential diagnosis of Usher syndrome and suggests that patients with mild cognitive impairment associated to visual and hearing loss should perform a comprehensive mutation screening that includes PEX genes.…”
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    Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female
  12. 692
    por Poe, Edgar Allan, 1809-1849
    Publicado 2002
    Tabla de Contenidos: “…Prólogo -- William Wilson -- El gato negro -- Los hechos en el caso del señor Valdemar -- El retrato oval -- El corazón delator -- El tonel de amontillado -- Eleonora -- Berenice -- Ligeia -- La caída de la Casa Usher -- Los crímenes de la calle Morgue -- La carta robada.…”
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    Narraciones extraordinarias /
  13. 693
    “…Usher 1 patients are born profoundly deaf and then develop retinal degeneration. …”
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    Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus
  14. 694
    “…Defects of CIB2, calcium‐ and integrin‐binding protein 2, have been reported to cause isolated deafness, DFNB48 and Usher syndrome type‐IJ, characterized by congenital profound deafness, balance defects and blindness. …”
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    CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival
  15. 695
    “…CME prevalence was found to be relatively higher in children with Usher syndrome. Autosomal recessive was the most prevalent inheritance identified in the EORD group as well as in the CME group. …”
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    Prevalence and associated factors of cystoid macular edema in children with early onset inherited retinal dystrophies
  16. 696
    por Fleischer, D.
    Publicado 1994
    “…It allows the physician to view the pathologic process directly, and with biopsy and cytology techniques, to obtain histological samples. Endoscopy helped to usher in the field of minimally invasive therapy and endoscopic treatment of bleeding ulcers and is now a standard form of treatment. …”
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    Endoscopic management of ulcer disease.
  17. 697
    por Nekkab, Narimane, Penny, Melissa A.
    Publicado 2022
    “…L9LS, a potent and safe antimalarial monoclonal antibody, demonstrated 88% protective efficacy against infection in a phase 1 trial in healthy adults.(1) These promising results are the first of many to usher in a potential new era of malaria prevention.…”
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    Accelerated development of malaria monoclonal antibodies
  18. 698
    “…BACKGROUND: Usher syndrome is a condition characterized by partial or total hearing loss and progressive pigmentary retinopathy. …”
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    Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep‐intronic variant in a Chinese child with profound hearing loss
  19. 699
    “…METHOD: We used data from the USHER Trial, which was a randomized clinical trial of HIV screening conducted in the BWH ED. …”
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    Estimation of the Prevalence of Undiagnosed and Diagnosed HIV in an Urban Emergency Department
  20. 700
    “…Control Usher syndrome cohorts lacking demonstrable pathogenic USH2A mutations showed no impairment in touch acuity. …”
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    A Genetic Basis for Mechanosensory Traits in Humans
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