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Mostrando 561 - 580 Resultados de 1,116 Para Buscar '"geneticist"', tiempo de consulta: 0.43s Limitar resultados
  1. 561
    “…Craniofacial characteristics are highly informative for clinical geneticists when diagnosing genetic diseases. As a first step towards the high-throughput diagnosis of ultra-rare developmental diseases we introduce an automatic approach that implements recent developments in computer vision. …”
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    Diagnostically relevant facial gestalt information from ordinary photos
  2. 562
    por Le Rouzic, Arnaud
    Publicado 2014
    “…In spite of its importance, directional epistasis is rarely measured or reported by quantitative geneticists, not only because its relevance is generally ignored, but also due to the lack of simple, operational, and accessible methods for its estimation. …”
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    Estimating directional epistasis
  3. 563
    por Spencer, Hamish G., Chiew, Kai X.
    Publicado 2015
    “…Population geneticists have long been interested in the ability of natural selection to maintain the levels of standing variation observed in natural populations. …”
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    The Maintenance of Single-Locus Polymorphism by Maternal Selection
  4. 564
    por Blom, Mozes P K
    Publicado 2015
    “…Recently developed molecular methods enable geneticists to target and sequence thousands of orthologous loci and infer evolutionary relationships across the tree of life. …”
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    EAPhy: A Flexible Tool for High-throughput Quality Filtering of Exon-alignments and Data Processing for Phylogenetic Methods
  5. 565
    “…Next to providing a unique resource for the development of new analysis methods, DIDA gives clinical and molecular geneticists a tool to find the most comprehensive information on the digenic nature of their diseases of interest.…”
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    DIDA: A curated and annotated digenic diseases database
  6. 566
    “…These results suggest ways in which geneticists might identify, a priori, those disease traits for which an “epistatic explanation” should be sought, and in the process better focus ongoing searches for risk alleles.…”
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    Survival of the Curviest: Noise-Driven Selection for Synergistic Epistasis
  7. 567
    “…In the United Kingdom, genetic counsellors work together with clinical geneticists and clinical scientist colleagues within specialist genetics services, but they also often work in multidisciplinary teams (MDTs) outside of such services. …”
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    The role of genetic counsellors in genomic healthcare in the United Kingdom: a statement by the Association of Genetic Nurses and Counsellors
  8. 568
    “…The dispensability of individual genes for viability has interested generations of geneticists. For some genes it is essential to maintain two functional chromosomal copies, while others may tolerate the loss of one or both copies. …”
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    Estimating the Selective Effects of Heterozygous Protein Truncating Variants from Human Exome Data
  9. 569
    “…This is of critical importance, as there are potentially serious consequences attached: decisions about various forms of treatment and even about life and death, such as termination of pregnancy, may hinge on the answer to these questions. Geneticists, thus, need to use the utmost care in the interpretation of identified variants and clinicians must be aware of this problem. …”
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    Potential and pitfalls in the genetic diagnosis of kidney diseases
  10. 570
    “…This review provides valuable resources for sugarcane breeders, geneticists, and broad scientific communities involved in bioenergy production.…”
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    Potentials, Challenges, and Genetic and Genomic Resources for Sugarcane Biomass Improvement
  11. 571
    “…India, known for its rich cultural, linguistic and ethnic diversity, has attracted the attention of population geneticists to understand its genetic diversity employing autosomal, Y-chromosomal and mitochondrial DNA markers. …”
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    A comprehensive portrait of Y-STR diversity of Indian populations and comparison with 129 worldwide populations
  12. 572
    por Gerlai, Robert
    Publicado 2010
    “…The zebrafish has been in the forefront of developmental biology for three decades and has become a favorite of geneticists. Due to the accumulated genetic knowledge and tools developed for the zebrafish it is gaining popularity in other disciplines, including neuroscience. …”
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    High-Throughput Behavioral Screens: the First Step towards Finding Genes Involved in Vertebrate Brain Function Using Zebrafish
  13. 573
    “…Our goal is to provide a literature review that could help clinicians and geneticists in interpreting the role of Pkp2 variants in the context of heritable sudden death syndromes. …”
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    Pleiotropic Phenotypes Associated With PKP2 Variants
  14. 574
    “…Confidence labels of 95% and 99% are identified, representing the probability of a bilocus combination being a true pathogenic result, providing geneticists with rational markers to evaluate the most relevant pathogenic combinations and limit the search space and time. …”
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    Predicting disease-causing variant combinations
  15. 575
    “…Under the coordination of Spanish Society of Pathology (SEAP-IAP) and the Spanish Society of Human Genetics (AEGH), these recommendations have been developed by pathologists and geneticists taking into account previously published recommendations and their experience in the molecular characterization of these genes. …”
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    Mutational Screening of BRCA1/2 Genes as a Predictive Factor for Therapeutic Response in Epithelial Ovarian Cancer: A Consensus Guide from the Spanish Society of Pathology (SEAP-IAP) and the Spanish Society of Human Genetics (AEGH)
  16. 576
    “…The t-complex is defined as naturally occurring variants of the proximal third of mouse chromosome 17 and has been studied by mouse geneticists for decades. This region contains many genes involved in processes from embryogenesis to sperm function. …”
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    Mouse t-complex protein 11 is important for progressive motility in sperm
  17. 577
    “…This review introduces GWAS of PD, followed by a discussion about the limitations of GWAS and the major challenges facing geneticists in the post-GWAS era. Alternative strategies to address these challenges are then proposed, such as epigenome-wide association studies (EWAS) and rare variant association studies (RVAS) using next-generation sequencing. …”
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    Genetic and epigenetic analyses of panic disorder in the post-GWAS era
  18. 578
    por Alpaslan-Roodenberg, Songül, Anthony, David, Babiker, Hiba, Bánffy, Eszter, Booth, Thomas, Capone, Patricia, Deshpande-Mukherjee, Arati, Eisenmann, Stefanie, Fehren-Schmitz, Lars, Frachetti, Michael, Fujita, Ricardo, Frieman, Catherine J., Fu, Qiaomei, Gibbon, Victoria, Haak, Wolfgang, Hajdinjak, Mateja, Hofmann, Kerstin P., Holguin, Brian, Inomata, Takeshi, Kanzawa-Kiriyama, Hideaki, Keegan, William, Kelso, Janet, Krause, Johannes, Kumaresan, Ganesan, Kusimba, Chapurukha, Kusimba, Sibel, Lalueza-Fox, Carles, Llamas, Bastien, MacEachern, Scott, Mallick, Swapan, Matsumura, Hirofumi, Morales-Arce, Ana Y., Motuzaite Matuzeviciute, Giedre, Mushrif-Tripathy, Veena, Nakatsuka, Nathan, Nores, Rodrigo, Ogola, Christine, Okumura, Mercedes, Patterson, Nick, Pinhasi, Ron, Prasad, Samayamantri P.R., Prendergast, Mary E., Punzo, Jose Luis, Reich, David, Sawafuji, Rikai, Sawchuk, Elizabeth, Schiffels, Stephan, Sedig, Jakob, Shnaider, Svetlana, Sirak, Kendra, Skoglund, Pontus, Slon, Viviane, Snow, Meradeth, Soressi, Marie, Spriggs, Matthew, Stockhammer, Philipp W., Szécsényi-Nagy, Anna, Thangaraj, Kumarasamy, Tiesler, Vera, Tobler, Ray, Wang, Chuan-Chao, Warinner, Christina, Yasawardene, Surangi, Zahir, Muhammad
    Publicado 2021
    “…We are a group of archaeologists, anthropologists, curators, and geneticists representing 24 countries and diverse global communities, most of whom met in November 2020 in a virtual workshop dedicated to ethics in ancient DNA research. …”
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    Ethics of DNA Research on Human Remains: Five Globally Applicable Guidelines
  19. 579
    “…Our intended audience is clinical and laboratory geneticists, child and adult neurologists, and genetic counselors.…”
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    Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes
  20. 580
    “…The SIOPE Host Genome Working Group, consisting of pediatric oncologists, clinical geneticists and scientists, met in January 2020 to discuss recommendations for genetic testing and surveillance for patients who are diagnosed with IM or have a family history of IM/PDGFRB germline variants. …”
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    Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group
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