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Mostrando 41 - 60 Resultados de 1,763 Para Buscar '"Usher"', tiempo de consulta: 0.64s Limitar resultados
  1. 41
    “…Usher syndrome is a group of autosomal recessive genetic disorders characterized by deafness, retinitis pigmentosa, and sometimes vestibular areflexia. …”
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    Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia
  2. 42
    “…Senear-Usher syndrome or pemphigus erythematosus is a pathology that overlaps clinically and serologically with pemphigus foliaceus and lupus erythematosus. …”
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    Autoantibodies in Senear-Usher Syndrome: Cross-Reactivity or Multiple Autoimmunity?
  3. 43
    “…Type 1 pili are representative of a class of bacterial surface structures assembled by the conserved chaperone/usher pathway and used by uropathogenic Escherichia coli to attach to bladder cells during infection. …”
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    Dissection of Pilus Tip Assembly by the FimD Usher Monomer
  4. 44
    “…A series of 71 patients including Usher patients previously screened by Sanger sequencing plus newly referred patients was studied. …”
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    Experience of targeted Usher exome sequencing as a clinical test
  5. 45
    por Ihlenfeldt, Wolf D
    Publicado 2014
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    Ushering the Cactvs Toolkit into the Python Age (without breaking the legacy)
  6. 46
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    Usher's syndrome: Can primarily be a primary ciliary disorder?
  7. 47
    “…BACKGROUND: Usher syndrome is an autosomal recessive disease that associates sensorineural hearing loss, retinitis pigmentosa and, in some cases, vestibular dysfunction. …”
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    Targeted next generation sequencing for molecular diagnosis of Usher syndrome
  8. 48
    “…BACKGROUND: Fimbriae are bacterial cell surface organelles involved in the pathogenesis of many bacterial species, including Gallibacterium anatis, in which a F17-like fimbriae of the chaperone-usher (CU) family was recently shown to be an important virulence factor and vaccine candidate. …”
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    Chaperone-usher fimbriae in a diverse selection of Gallibacterium genomes
  9. 49
    “…Objective: To investigate working memory (WM), phonological skills, lexical skills, and reading comprehension in adults with Usher syndrome type 2 (USH2). Design: The participants performed tests of phonological processing, lexical access, WM, and reading comprehension. …”
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    Cognitive skills and reading in adults with Usher syndrome type 2
  10. 50
    “…The aim of this review is to focus the current knowledge about mental and behavioral disorders in Usher syndrome. Previous studies described the presence of various mental disorders associated with Usher syndrome, suggesting possible mechanisms of association between these disorders. …”
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    Psychosis, Mood and Behavioral Disorders in Usher Syndrome: Review of the Literature
  11. 51
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    Senear–Usher syndrome presenting with bipolar disorder: Management challenges
  12. 52
    “…Usher syndrome (USH) is an autosomal recessive disorder characterized by a dual sensory impairment affecting hearing and vision. …”
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    Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome
  13. 53
    “…BACKGROUND: Usher syndrome (USH) is a genetically heterogeneous deafness‐blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3. …”
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    Usher syndrome in Denmark: mutation spectrum and some clinical observations
  14. 54
    “…Usher syndrome type III (USH3) characterized by progressive loss of vision and hearing is caused by mutations in the clarin-1 gene (CLRN1). …”
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    Modeling and Preventing Progressive Hearing Loss in Usher Syndrome III
  15. 55
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    CRISPR-Cas systems: ushering in the new genome editing era
  16. 56
    por Guerra, Alfredo J.
    Publicado 2019
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    mSphere of Influence: Ushering in the CRISPR Revolution to Toxoplasma Biology
  17. 57
    “…To date, 10 causative genes have been identified for Usher syndrome, with MYO7A accounting for >50% of type 1 and USH2A contributing to approximately 80% of type 2 Usher syndrome. …”
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    Usher syndrome: clinical features, molecular genetics and advancing therapeutics
  18. 58
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    Ushering in safe, effective, secure, and ethical medicine in the digital era
  19. 59
    “…Currently cochlear implantation or hearing aids are the only treatments for Usher-related hearing loss. However, gene therapy has shown promise in treating Usher-related retinitis pigmentosa. …”
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    Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy
  20. 60
    “…Objective: To systematically appraise the implementation of cochlear implantation (CI) in Usher Syndrome (USH) Types 1, 2, and 3 patients, and analyze who would benefit from CI. …”
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    The Outcomes of Cochlear Implantation in Usher Syndrome: A Systematic Review
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