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Mostrando 501 - 520 Resultados de 1,116 Para Buscar '"geneticist"', tiempo de consulta: 0.14s Limitar resultados
  1. 501
    por Govindaraju, Diddahally R.
    Publicado 2020
    “…Importantly, he has shown how geneticists, physicians, patients and their families as well as society at large must cooperate, develop mutual trust and share ethical responsibilities in order to predict, prevent, manage and cure many inherited disorders. …”
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    A Chronicle on Genetics and the March of Darwinian and Mendelian Medicine
  2. 502
    “…Structural Variants (SVs) are often underdiagnosed in inherited genetic diseases, probably because few user-friendly tools are available for biologists or geneticists to identify them easily. We present here the diagnosis of two brothers presenting a demyelinating motor-sensitive neuropathy: a presumed homozygous c.5744_5745delAT in exon 10 of SACS gene was initially detected, while actually these patients were heterozygous for this mutation and harbored a large deletion of SACS exon 10 in the other allele. …”
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    A mutation can hide another one: Think Structural Variants!
  3. 503
    “…With limited access to trained clinical geneticists and/or genetic counselors in the majority of healthcare systems globally, and the expanding use of genetic testing in all specialties of medicine, many healthcare providers do not receive the relevant support to order the most appropriate genetic test for their patients. …”
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    A Simple Practical Guide to Genomic Diagnostics in a Pediatric Setting
  4. 504
    “…We thus hope this overview will empower geneticists who were unfamiliar with HLA to run MHC-focused analyses following the footsteps of the Covid-19|HLA & Immunogenetics Consortium.…”
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    Approaching Genetics Through the MHC Lens: Tools and Methods for HLA Research
  5. 505
    “…These trends suggest that neurologists, clinical geneticists, genetic counselors, and other clinicians across primary care and various specialties should be prepared to answer questions about PD genetic risks and test results. …”
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    Tools for communicating risk for Parkinson’s disease
  6. 506
    “…This process leverages collaboration and collective cognition of patients, principal care providers, clinical genomic specialists, laboratory geneticists, and payers. We detail considerations for referral, triage, patient intake, phenotyping, testing eligibility, variant analysis and interpretation, counseling, and management within the utilitarian limitations of health care systems. …”
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    The practice of genomic medicine: A delineation of the process and its governing principles
  7. 507
    “…Multidisciplinary management of children is essential, including ophthalmic surgeons, orthoptists, paediatricians, geneticists and genetic counsellors, and should extend beyond the medical team to include school and local paediatric visual support services. …”
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    Congenital cataract: a guide to genetic and clinical management
  8. 508
    “…Finally, we have developed a user-friendly web application based on the MAGI-ACMG algorithm, available to geneticists for variant interpretation.…”
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    MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations
  9. 509
    “…Our chromosomal aberration maps provide diagnostics support to clinical geneticists, aid cytogeneticists to interpret and report cytogenetic findings and support researchers interested in human gene function. …”
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    Mapping biomedical concepts onto the human genome by mining literature on chromosomal aberrations
  10. 510
    “…Coalescent theory is a powerful tool for population geneticists as well as molecular biologists interested in understanding the patterns and levels of DNA variation. …”
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    Mlcoalsim: Multilocus Coalescent Simulations
  11. 511
    “…The markers identified in this project are a valuable resource to breeders and geneticists in the quest to produce cotton cultivars with a high level of resistance to reniform nematode.…”
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    Identification and genomic location of a reniform nematode (Rotylenchulus reniformis) resistance locus (Ren(ari)) introgressed from Gossypium aridum into upland cotton (G. hirsutum)
  12. 512
    por Aswini, Y. B., Varun, S.
    Publicado 2010
    “…From the era of eugenics to the present era, this area has seen many turns in which geneticists have put through their effort to tie together the strings of both molecular genetics and public health. …”
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    Genetics in public health: Rarely explored
  13. 513
    “…Coexistence of thalassemia, hemoglobinopathies and malaria has interested geneticists over many decades. The present study represents such a population from the eastern Indian state of Orissa. …”
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    Genotype-phenotype correlation of β-thalassemia spectrum of mutations in an Indian population
  14. 514
    “…This freely available program should constitute a useful addition to the diagnostic armamentarium of clinical geneticists.…”
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    Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype
  15. 515
    “…Cognitive scientists, behavior geneticists, and political scientists have identified several ways in which emotions influence political attitudes, and psychologists have shown that emotion regulation can have an important causal effect on physiology, cognition, and subjective experience. …”
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    Emotion Regulation as the Foundation of Political Attitudes: Does Reappraisal Decrease Support for Conservative Policies?
  16. 516
    “…However, it has since acquired a much broader utility as a central unified disease-oriented mutation repository utilized by human molecular geneticists, genome scientists, molecular biologists, clinicians and genetic counsellors as well as by those specializing in biopharmaceuticals, bioinformatics and personalized genomics. …”
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    The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
  17. 517
    “…In this review, we provide medical geneticists with some basic insights into some of the most popular in silico tools for splicing defect prediction, from the viewpoint of end-users. …”
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    In silico tools for splicing defect prediction - A survey from the viewpoint of end-users
  18. 518
    “…Our evaluation included a meta-analysis of the candidate gene literature, incorporation of the results of the largest genomic study yet published for schizophrenia, ratings from informed researchers who have published on these genes, and ratings from 24 schizophrenia geneticists. On the basis of current empirical evidence and mostly consensual assessments of informed opinion, it appears that the historical candidate gene literature did not yield clear insights into the genetic basis of schizophrenia. …”
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    Evaluating Historical Candidate Genes for Schizophrenia
  19. 519
    “…Recent technological advances have created challenges for geneticists and a need to adapt to a wide range of new bioinformatics tools and an expanding wealth of publicly available data (e.g., mutation databases, and software). …”
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    Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process
  20. 520
    “…Statistical analysis typically looks for association between a phenotype and a SNP taken individually via single-locus tests. However, geneticists admit this is an oversimplified approach to tackle the complexity of underlying biological mechanisms. …”
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    A survey about methods dedicated to epistasis detection
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