Materias dentro de su búsqueda.
Mostrando 661 - 680 Resultados de 1,116 Para Buscar '"geneticist"', tiempo de consulta: 0.13s Limitar resultados
  1. 661
    “…In particular, the high frequency of rare coding genetic variants in dementing genes strongly supports the role of geneticists in both, clinical phenotype characterisation and interpretation of genotypic data. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Genetic Counselling Improves the Molecular Characterisation of Dementing Disorders
  2. 662
    “…Laboratory scientists, clinical geneticists, psychologists, and a fetal medicine specialist screened the papers and performed the data extraction. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies
  3. 663
    “…Twenty-five experts (9 medical geneticists, 8 genetic counselors, and 9 bioethicists) completed two rounds of surveys ranking concepts’ importance to informed consent. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Defining the Critical Components of Informed Consent for Genetic Testing
  4. 664
    “…Though Illumina still dominates worldwide sequencing, Oxford Nanopore is one of the leading technologies currently being used by biologists, medics and geneticists across various applications. Oxford Nanopore is automated and relatively simple for conducting experiments, but generates gigabytes of raw data, to be processed by often ambiguous set of alternative bioinformatics command-line tools, and genomics frameworks which require a knowledge of bioinformatics to run. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    NanoForms: an integrated server for processing, analysis and assembly of raw sequencing data of microbial genomes, from Oxford Nanopore technology
  5. 665
    “…The objectives of our european Consortium are the following: (1) identify genetic variants and alterations in biological pathways associated with HS susceptibility, severity and response to treatment; (2) design in vitro two-dimensional epithelial cell and tri-dimensional skin models to unravel the HS molecular mechanisms; and (3) produce holistic health records HHR to complement medical observations by developing a smartphone application to monitor patients remotely. Dermatologists, geneticists, immunologists, molecular cell biologists, and computer science experts constitute the BATMAN consortium. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Holistic health record for Hidradenitis suppurativa patients
  6. 666
    “…The genetic information of the Chinese Tibetan group has been a long-standing research hotspot among population geneticists and archaeologists. Herein, 309 unrelated individuals from two Tibetan groups living in Qinghai Province, China (CTQ), and Tibet Autonomous Region, China (CTT), were successfully genotyped using a new homemade six-color fluorescence multiplex panel, which contained 59 autosomal deletion/insertion polymorphisms (au-DIPs), two mini short tandem repeats (miniSTRs), two Y-chromosomal DIPs, and one Amelogenin. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Forensic Efficiency Estimation of a Homemade Six-Color Fluorescence Multiplex Panel and In-Depth Anatomy of the Population Genetic Architecture in Two Tibetan Groups
  7. 667
    “…This report is designed to serve as a resource for immunologists and geneticists pursuing the molecular diagnosis of individuals with heritable immunological disorders and for the scientific dissection of cellular and molecular mechanisms underlying monogenic and related human immune diseases. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee
  8. 668
    “…Moreover, pES had substantial clinical impact, which warrants implementation of pES in the routine care of the fetal neurologist in close collaboration with gynecologists and clinical geneticists.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Prenatal exome sequencing: A useful tool for the fetal neurologist
  9. 669
    “…A successful result is strongly dependent on patient selection, and a multidisciplinary team of neurologists, geneticists and orthopaedic surgeons is required to achieve good results.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Management of scapular dysfunction in facioscapulohumeral muscular dystrophy: the biomechanics of winging, arthrodesis indications, techniques and outcomes
  10. 670
    “…It is likely that genetic causes are largely underdiagnosed, as the role and the timing of genetic testing in FSGS is not established and genetic counseling, testing options, and interpretation of genotype in the context of phenotype may be outside the scope of practice for both nephrologists and geneticists. Yet most clinicians believe that a genetic diagnosis can lead to targeted therapy, limit the use of high‐dose corticosteroids as a therapeutic trial, and allow the prediction of the natural history and risk for recurrence in the transplanted kidney. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease
  11. 671
    por González Jácome, Alba
    Publicado 2018
    “…In the Pre-Hispanic past, besides being a staple food, it was a fundamental part of forms of the social organization, the economy, ideology, cosmovision, religion, ceremonies and rituals of Mesoamerican cultures.The main point of the article is in regards to food and the processes of change related to this plant that has been the focus of study for many researchers and from several points of view (geneticists, biologists, biochemists, archaeologists, historians, anthropologists, sociologists, agronomists, dieticians, nutritionists, economists). …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo
    Corn and Food: A brief history of a long journey
  12. 672
    por Jayakodi, Murukarthick, Golicz, Agnieszka A., Kreplak, Jonathan, Fechete, Lavinia I., Angra, Deepti, Bednář, Petr, Bornhofen, Elesandro, Zhang, Hailin, Boussageon, Raphaël, Kaur, Sukhjiwan, Cheung, Kwok, Čížková, Jana, Gundlach, Heidrun, Hallab, Asis, Imbert, Baptiste, Keeble-Gagnère, Gabriel, Koblížková, Andrea, Kobrlová, Lucie, Krejčí, Petra, Mouritzen, Troels W., Neumann, Pavel, Nadzieja, Marcin, Nielsen, Linda Kærgaard, Novák, Petr, Orabi, Jihad, Padmarasu, Sudharsan, Robertson-Shersby-Harvie, Tom, Robledillo, Laura Ávila, Schiemann, Andrea, Tanskanen, Jaakko, Törönen, Petri, Warsame, Ahmed O., Wittenberg, Alexander H. J., Himmelbach, Axel, Aubert, Grégoire, Courty, Pierre-Emmanuel, Doležel, Jaroslav, Holm, Liisa U., Janss, Luc L., Khazaei, Hamid, Macas, Jiří, Mascher, Martin, Smýkal, Petr, Snowdon, Rod J., Stein, Nils, Stoddard, Frederick L., Stougaard, Jens, Tayeh, Nadim, Torres, Ana M., Usadel, Björn, Schubert, Ingo, O’Sullivan, Donal Martin, Schulman, Alan H., Andersen, Stig Uggerhøj
    Publicado 2023
    “…The resources presented constitute a genomics-based breeding platform for faba bean, enabling breeders and geneticists to accelerate the improvement of sustainable protein production across the Mediterranean, subtropical and northern temperate agroecological zones.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    The giant diploid faba genome unlocks variation in a global protein crop
  13. 673
    “…Even if the feasibility of a global consensus on labeling seems difficult, geneticists, sociologists, anthropologists, and ethicists should help develop policies and practices for the biomedical field.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Population designations in biomedical research: Limitations and perspectives
  14. 674
    “…A multidisciplinary fetal neurology team, including perinatologists, geneticists, pediatric neurologists, neuroradiologists and neurosurgeons, can provide parents with the most thorough prenatal counseling. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Fetal cerebral ventriculomegaly: What do we tell the prospective parents?
  15. 675
    por Thiene, Gaetano
    Publicado 2023
    “…Sudden death prevention in the young has to be faced by an interdisciplinary team, including pathologists, cardiologists, sport physicians, and geneticists, the clinicopathologic correlation method still being the polar star. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Autopsy and sudden death
  16. 676
    “…In short, MendelIHT enables geneticists to fit a single regression model that simultaneously considers the effect of all SNPs and dozens of traits. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Multivariate genome-wide association analysis by iterative hard thresholding
  17. 677
    “…Therefore, we have performed a retrospective evaluation of WES application in 209 cases referred to the Department of Biochemistry and Molecular Genetics of the Hospital Clinic of Barcelona for WES sequencing derived from neurologists or clinical geneticists. In addition, we have further discussed some important facts regarding classification criteria for pathogenicity of rare variants, variants of unknown significance, deleterious variants, different clinical phenotypes, or frequency of actionable secondary findings. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders
  18. 678
    “…Nineteen HPs participated overall (eight clinical geneticists, nine genetic counselors, and two intensivists). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Rapid Genomic Testing in Intensive Care: Health Professionals’ Perspectives on Ethical Challenges
  19. 679
    “…METHODS: Data on all board-certified genetics providers were analyzed including Medical Geneticists (MG) and Genetic Counselors (GC) in California. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Genetics Workforce: Distribution of Genetics Services and Challenges to Healthcare in California
  20. 680
    “…Among the 16 respondents, most were clinical geneticists performing only WES, while 5 also used WGS. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey
Herramientas de búsqueda: RSS