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Mostrando 321 - 340 Resultados de 1,116 Para Buscar '"geneticist"', tiempo de consulta: 0.17s Limitar resultados
  1. 321
    por Talbert, Paul B., Henikoff, Steven
    Publicado 2010
    “…Geneticists have long known that centromeres suppress crossing over, but considerable evidence indicates that they appear to recombine. …”
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    Centromeres Convert but Don't Cross
  2. 322
    por Holland, James B.
    Publicado 2015
    “…A multiparent advanced-generation intercross population of maize has been developed to help plant geneticists identify sequence variants affecting important agricultural traits.…”
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    MAGIC maize: a new resource for plant genetics
  3. 323
    por Jones, Emma M.
    Publicado 2016
    “…• Leading UK geneticists share behind-the-scenes insights from their careers. • Recollections of early computing reveal struggles with technology. • Problems with gene nomenclature are revisited: ‘their gene is like their baby’.…”
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    A witness seminar on the history of the Human Gene Mapping Workshops
  4. 324
    “…In this regard, cardiologists play a central role, aiding geneticists to correctly evaluate the pathogenicity of the identified genetic alterations. …”
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    Genetic Testing and Counselling in Hypertrophic Cardiomyopathy: Frequently Asked Questions
  5. 325
    “…Interviews with key professionals revealed the importance of networks and relationship building, leadership, culture, and the relative advantage afforded by ultra-rapid genomics in the care of critically ill children. Although clinical geneticists focused on intervention characteristics and the fit with patient-centered care, intensivists emphasized the importance of access to knowledge, in particular from clinical geneticists. …”
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    Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level
  6. 326
    “…We also developed a modified ACMG checklist to assist molecular geneticists in adjusting criterion strength and in adding literature-retrieved or patient-specific information, when available. …”
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    Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting
  7. 327
    “…The European Society of Human Genetics—Young Committee (ESHG-Y) aims to support young human geneticists by developing strategies and programs for better education and creating a strong network in all European countries. …”
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    The European Society of Human Genetics—Young committee- activities and achievements between 2019–2022
  8. 328
    “…Several databases and web services are already being used by clinical geneticists to interpret the medical relevance of identified CNVs in patients. …”
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    Constructing a database for the relations between CNV and human genetic diseases via systematic text mining
  9. 329
    por Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth
    Publicado 2020
    “…This data will aid both clinical geneticists and molecular geneticists in the diagnosis of this emerging syndrome.…”
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    A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
  10. 330
    “…BACKGROUND: The enormous throughput and low cost of second-generation sequencing platforms now allow research and clinical geneticists to routinely perform single experiments that identify tens of thousands to millions of variant sites. …”
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    SeqAnt: A web service to rapidly identify and annotate DNA sequence variations
  11. 331
    “…Tight collaboration between clinicians, geneticists, biochemists, and other specialists is increasingly required for clarification of diagnosis in cases with atypical presentation.…”
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    Mild phenotype in an adult male with X‐linked adrenoleukodystrophy – case report
  12. 332
    “…This case highlights an important lesson for laboratory genetic testing. Geneticists and Genetic Counselors should be aware that although rare, mosaic variegated aneuploidy should be considered if mosaic aneuploidies are observed on karyotype, particularly in the context of short stature.…”
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    Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing
  13. 333
    por Coco, Roberto
    Publicado 2014
    “…Preimplantational Genetics Diagnosis (PGD) is requested by geneticists and reproductive specialists. Usually geneticists ask for PGD because one or both members of the couple have an increased genetic risk for having an affected offspring. …”
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    Reprogenetics: Preimplantational genetics diagnosis
  14. 334
    “…The work was performed by a group of laboratory geneticists and bioinformaticians, and discussed with clinical geneticists, industry and patients' representatives, and other stakeholders in the field of human genetics. …”
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    Guidelines for diagnostic next-generation sequencing
  15. 335
    “…The goal of this work is to provide helpful suggestions to geneticists and clinicians dealing with ALS.…”
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    High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines
  16. 336
    “…The aim of these recommendations is primarily to list the points to consider for clinical (laboratory) geneticists, bioinformaticians, and (non-)geneticists, to provide technical advice, aid clinical decision-making and the reporting of the results.…”
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    Recommendations for whole genome sequencing in diagnostics for rare diseases
  17. 337
    “…Researchers at the University of Bourgogne in Dijon, France surveyed French geneticists who were members of the “Association Français des Généticiens” on incidental findings (IF) found on array-based comparative genomic hybridization (aCGH) technology retrospectively over a seven-year period.…”
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    Incidental Findings: The Importance of Pretest Counseling
  18. 338
    “…Clinical geneticists, neurologists, psychiatrists, and other healthcare providers can learn from this case report that patients with a behavioral phenotype that includes a mild learning disability may also require a thorough examination, including brain MRI and whole‐exome sequencing.…”
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    A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report
  19. 339
    por Knight, Jo
    Publicado 2004
    “…There are a number of web-based tools and programs freely available to enable geneticists to perform power calculations, and the specifics of some of these are discussed here.…”
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    A survey of current software for genetic power calculations
  20. 340
    “…This experience should be of interest for geneticists, laboratory-based researchers, and clinicians entrusted with OC worldwide.…”
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    Implementing the Brazilian Database on Orofacial Clefts
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