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Mostrando 521 - 540 Resultados de 1,116 Para Buscar '"geneticist"', tiempo de consulta: 0.10s Limitar resultados
  1. 521
    “…This case illustrates the importance of a multidisciplinary approach involving clinicians and molecular geneticists and the need for a careful re-evaluation of NGS data.…”
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    Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results
  2. 522
    por Paaby, Annalise B., Gibson, Greg
    Publicado 2016
    “…Evolutionary developmental genetics has traditionally been conducted by two groups: Molecular evolutionists who emphasize divergence between species or higher taxa, and quantitative geneticists who study variation within species. Neither approach really comes to grips with the complexities of evolutionary transitions, particularly in light of the realization from genome-wide association studies that most complex traits fit an infinitesimal architecture, being influenced by thousands of loci. …”
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    Cryptic Genetic Variation in Evolutionary Developmental Genetics
  3. 523
    “…The GDS Policy, however, will face difficult challenges ahead as geneticists seek to balance the very real concerns of research participants and the scientific norms that propel research forward. …”
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    The growth and gaps of genetic data sharing policies in the United States
  4. 524
    “…This article aims to serve as a resource for specialists including nephrologists, paediatricians, neurologists and geneticists who require practical guidance on the management of events such as non-infectious pneumonitis, rash, stomatitis, infections, and renal AEs. …”
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    Management of everolimus-associated adverse events in patients with tuberous sclerosis complex: a practical guide
  5. 525
    “…Diagnostic challenges posed by undiagnosed diseases have solutions in model organism research, which provides a wealth of detailed biological information. Model organism geneticists are by necessity experts in particular genes, gene families, specific organs, and biological functions. …”
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    Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research
  6. 526
    “…Our model highlights a unique collaboration between physician‐geneticists, pharmacists, and genetic counselors.…”
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    Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care
  7. 527
    “…The effect of a mutation on the organism often depends on what other mutations are already present in its genome. Geneticists refer to such mutational interactions as epistasis. …”
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    The Influence of Higher-Order Epistasis on Biological Fitness Landscape Topography
  8. 528
    “…Much of this program requires a partnership with obstetricians, pediatricians, neonatologists and geneticists. Finally, we review the evidence regarding prophylaxis and discuss our approach in the absence of guidance from a randomized clinical trial.…”
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    The importance of early diagnosis of Stickler syndrome: Finding opportunities for preventing blindness
  9. 529
    “…Understanding the pathogenic role of this mutation and its different manifestations is crucial for geneticists and scientists to guide their research and to select proper cohorts of patients. …”
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    GBA, Gaucher Disease, and Parkinson’s Disease: From Genetic to Clinic to New Therapeutic Approaches
  10. 530
    por Cornel, Martina C.
    Publicado 2019
    “…Evidence shows that assessment of learners’ needs and the definition of competences have driven slow but gradual improvement in genetics competence among non-geneticists. Attitudes and behavior are mainly influenced by face-to-face training. eLearning modules can serve to increase knowledge in a large number of participants in a rapidly changing field. …”
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    Evidence-Based Genetic Education of Non-Genetic-Expert Physicians: Experiences Over Three Decades in Amsterdam
  11. 531
    “…Mainly, CRISPR (clustered regularly interspaced short palindromic repeats) Cas9 (CRISPR-associated protein 9) is a technology that enables geneticists to edit parts of the genome. In this study, we utilized this technology to generate an mmp15b mutant by using zebrafish as an animal model. …”
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    Generation of mmp15b Zebrafish Mutant to Investigate Liver Diseases
  12. 532
    “…Here, we present on behalf of the European Hematology Association, evidence- and consensus-based guidelines, established by an international group of experts in different fields, including hematologists, gynecologists, general practitioners, medical geneticists, and experts in rare inherited anemias from various European countries for standardized and appropriate choice of therapeutic interventions for the management of pregnancy in rare inherited anemias, including Diamond-Blackfan Anemia, Congenital Dyserythropoietic Anemias, Thalassemia, Sickle Cell Disease, Enzyme deficiency and Red cell membrane disorders.…”
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    Recommendations for Pregnancy in Rare Inherited Anemias
  13. 533
    “…Resource of indica rice genetic variation reported in this study will be valuable to geneticists and breeders.…”
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    Resequencing of 1,143 indica rice accessions reveals important genetic variations and different heterosis patterns
  14. 534
    “…Neuroblastoma (NB) is the most common extracranial childhood tumour, clinically defined in five distinct stages (1–4 & 4S), where stages 3–4 define chemotherapy-resistant, highly aggressive disease phases. NB is a model for geneticists and molecular biologists to classify genetic abnormalities and identify causative disease genes. …”
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    Cancer predictive studies
  15. 535
    “…A committee of international experts in paediatric neuroradiology prepared systematic literature reviews and formulated neuroimaging recommendations in collaboration with geneticists, paediatric neurologists and pathologists during consensus meetings in the context of the European Network Neuro-MIG initiative on Brain Malformations (https://www.neuro-mig.org/). …”
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    Definitions and classification of malformations of cortical development: practical guidelines
  16. 536
    por Martin, Lisa J., Benson, D. Woodrow
    Publicado 2021
    “…Continued progress in unraveling the genetic underpinnings of CHD will require multidisciplinary collaboration between geneticists, quantitative scientists, clinicians, and developmental biologists.…”
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    Focused Strategies for Defining the Genetic Architecture of Congenital Heart Defects
  17. 537
    por Bi, Wenjian, Lee, Seunggeun
    Publicado 2021
    “…This review can serve as a practical guide for geneticists, epidemiologists, and other medical researchers to identify genetic variations associated with health-related phenotypes in large-scale biobank data analysis. …”
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    Scalable and Robust Regression Methods for Phenome-Wide Association Analysis on Large-Scale Biobank Data
  18. 538
    “…For nearly a hundred years evolutionary geneticists have characterized reproductive isolation (RI) mechanisms and specific barriers to gene flow required for species formation. …”
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    Comparative studies on speciation: 30 years since Coyne and Orr
  19. 539
    “…Many biochemical and physiological properties of plants that are of interest to breeders and geneticists have extremely low throughput and/or can only be measured destructively. …”
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    Hyperspectral reflectance-based phenotyping for quantitative genetics in crops: Progress and challenges
  20. 540
    “…Since WHO has recognized myeloid neoplasms with germline predisposition as a new entity in 2016, it has become increasingly clear that diagnosing familial leukemia has critical implications for both the patient and his/her family, and that interdisciplinary teams of hematologists and clinical geneticists should provide care for this specific patient group. …”
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    Review of guidelines for the identification and clinical care of patients with genetic predisposition for hematological malignancies
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