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Mostrando 481 - 500 Resultados de 501 Para Buscar '"Odyssey"', tiempo de consulta: 0.61s Limitar resultados
  1. 481
    “…SHAPER consists of three studies – Melodies for Mums, Dance for Parkinson's, and Stroke Odysseys – which will recruit over 800 participants, deliver the interventions and draw conclusions on their clinical impact, implementation effectiveness and cost-effectiveness. …”
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    Scaling-up Health-Arts Programmes: the largest study in the world bringing arts-based mental health interventions into a national health service
  2. 482
    “…The underlying cause of ID is largely of genetic origin; however, identifying this genetic cause has in the past often led to long diagnostic Odysseys. Over the past decades, improvements in genetic diagnostic technologies and strategies have led to these causes being more and more detectable: from cytogenetic analysis in 1959, we moved in the first decade of the 21st century from genomic microarrays with a diagnostic yield of ~20% to next-generation sequencing platforms with a yield of up to 60%. …”
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    The Genetics of Intellectual Disability
  3. 483
    “…N95 masks have been promoted as health prevention odysseys in the battle against viruses such as COVID-19. …”
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    A Systematic Review of Whether the Use of N95 Respirator Masks Decreases the Incidence of Cardiovascular Disease in the General Population
  4. 484
    por Hofmann, Bjørn
    Publicado 2023
    “…These temporal uncertainties pose basic epistemological and ethical challenges as they can result in overdiagnosis, overtreatment, unnecessary anxiety and fear, useless and even harmful diagnostic odysseys, as well as vast opportunity costs. The point is not to stop our quest for knowledge about disease but to encourage real diagnostic improvements that help more people in ever better manner as early as possible. …”
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    Temporal uncertainty in disease diagnosis
  5. 485
    “…RESULTS: We correctly diagnosed 18 positive blinded controls, provided genetic diagnosis to 25 potential LSD patients, and ended with 18 diagnostic odysseys. CONCLUSION: We report the assessment of a next–generation-sequencing-based approach as an accessory tool in the diagnosis of LSDs, a group of disorders which have overlapping clinical profiles and genetic heterogeneity. …”
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    Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
  6. 486
    “…OBJECTIVE: We hypothesized that novel investigative pathways are needed to decrease diagnostic odysseys in pediatric mitochondrial disease and sought to determine the utility of clinical exome sequencing in a large cohort with suspected mitochondrial disease and to explore whether any of the traditional indicators of mitochondrial disease predict a confirmed genetic diagnosis. …”
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    Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era
  7. 487
    “…In short answer responses about their experience obtaining medical care for Long Covid, our respondents described encountering medical professionals who dismissed their experience, leading to lengthy diagnostic odysseys and lack of treatment options for Long Covid. …”
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    Long covid and medical gaslighting: Dismissal, delayed diagnosis, and deferred treatment
  8. 488
    “…Phenotypes modify according to age, and although deep phenotyping has allowed to outline certain entities, genotype-phenotype correlations are still poor, commonly leading to long-lasting diagnostic odysseys and ineffective therapies. Recent adult series show that the target patients to be identified for genetic testing are those with epilepsy and different risk factors. …”
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    Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies
  9. 489
    “…Whole exome (WES) and genome sequencing (WGS) have been recently studied in critically ill newborns across the world and have shown promising results in shortening diagnostic odysseys and providing clinical utility. However, in certain circumstances several barriers might limit access to these tests. …”
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    Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States
  10. 490
    por Lek, Monkol
    Publicado 2022
    “…As he originally studied computer engineering at the University of New South Wales in Sydney, Australia, he now utilises computational methods to optimise large-scale genetic studies, provide globally accessible resources for genetic research communities and, importantly, resolve diagnostic odysseys for rare disease patients. Monkol completed his PhD in Prof. …”
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    Decoding the genetics of rare disease: an interview with Monkol Lek
  11. 491
    “…Whilst the clinical severity associated with a non-coding variant can be difficult to predict, obtaining a molecular diagnosis is crucial as it ends diagnostic odysseys and assists in management.…”
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    Intronic variants in inborn errors of metabolism: Beyond the exome
  12. 492
    “…BACKGROUND: Patients with rare diseases usually go through years of diagnostic odysseys. The large number of rare diseases and the associated lack of expertise pose a major challenge to physicians. …”
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    Rare diseases: why is a rapid referral to an expert center so important?
  13. 493
    “…Timely diagnosis through genomic testing can help avert diagnostic odysseys and facilitates accurate genetic counselling and tailored specialist management. …”
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    Clinical and genetic variability in children with partial albinism
  14. 494
    “…A cost- and time analysis shows most patients would benefit from first-line exome sequencing, reducing their individual diagnostic odysseys. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-023-02642-4.…”
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    Retrospective file review shows limited genetic services fail most patients – an argument for the implementation of exome sequencing as a first-tier test in resource-constrained settings
  15. 495
    “…Rare disease patients often endure prolonged diagnostic odysseys and may still remain undiagnosed for years. …”
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    Phenotype-Driven Molecular Genetic Test Recommendation for Diagnosing Pediatric Rare Disorders
  16. 496
    “…Unfortunately, to date there are no known curative therapies, mostly owing to the rarity and heterogeneity of individual mitochondrial diseases, leading to diagnostic odysseys and difficulties in clinical trial design. …”
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    Systems Biology Approaches Toward Understanding Primary Mitochondrial Diseases
  17. 497
    “…This leads to increasing diagnostic yield, shortening of the diagnostic Odysseys and advancing our understanding of human illnesses. …”
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    ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
  18. 498
    “…Yet, many endure years-long diagnostic odysseys. We report the development of a machine learning algorithm to identify patients with GD from electronic health records. …”
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    Development of a rare disease algorithm to identify persons at risk of Gaucher disease using electronic health records in the United States
  19. 499
    “…It ends multi-year diagnostic odysseys, provides personalized medicine therapy, and optimizes genetic counselling for these families.…”
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    Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing
  20. 500
    “…The availability of next-generation sequencing (NGS) helps to resolve many of the diagnostic odysseys. Common variable immunodeficiency disease (CVID) is an entity encompassing a heterogenous group of conditions with hypogammaglobulinemia, and it is a diagnosis of exclusion. …”
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    Novel MAGT1 Mutation Found in the First Chinese XMEN in Hong Kong
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