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Mostrando 721 - 740 Resultados de 1,116 Para Buscar '"geneticist"', tiempo de consulta: 0.17s Limitar resultados
  1. 721
    “…In recent years, forensic geneticists have begun to develop some ancestry informative marker (AIM) panels for ancestry analysis of regional populations. …”
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    A set of novel SNP loci for differentiating continental populations and three Chinese populations
  2. 722
    “…The data analyzed and reported here provide a resource for geneticists and breeders toward identifying and utilizing drought tolerance genes in sweet potato.…”
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    Transcriptomic analysis of sweet potato under dehydration stress identifies candidate genes for drought tolerance
  3. 723
    “…METHODS: A group of experts (neuromuscular medicine, neuropediatricians and geneticists) convened to discuss the diagnosis and management of DMD in the MENA region. …”
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    Current management of Duchenne muscular dystrophy in the Middle East: expert report
  4. 724
    “…This study can provide geneticists with deeper insight into the pathogenesis of POI and aid clinicians in making early diagnoses in affected women.…”
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    A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency
  5. 725
    “…Comprehensive genomic annotation of regulatory elements active in healthy canine tissues is crucial both for identifying candidate causal variants and for designing functional studies needed to translate genetic associations into disease insight. Currently, canine geneticists rely primarily on annotations of the human or mouse genome that have been remapped to dog, an approach that misses dog-specific features. …”
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    BarkBase: Epigenomic Annotation of Canine Genomes
  6. 726
    “…Information provided in this article can be used by food industry to develop chickpea-based foods and by geneticists for studies of association mapping aimed at the identification of genomic regions controlling the nutritional and technological traits.…”
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    Data on the chemical composition, bioactive compounds, fatty acid composition, physico-chemical and functional properties of a global chickpea collection
  7. 727
    “…Accordingly, non-invasive prenatal testing (NIPT) using cell-free fetal DNA in maternal plasma has gained a considerable deal of interest from both geneticists and obstetricians. Efficacy of this method in identification of common aneuploidies has been extensively assessed in singleton pregnancies. …”
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    Non-invasive prenatal test to screen common trisomies in twin pregnancies
  8. 728
    “…Over the years, breeders, geneticists, physiologists, and agronomists have been able to improve the understanding between complex dynamic traits and plant response to changing environmental conditions using FB-HTPP. …”
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    A data workflow to support plant breeding decisions from a terrestrial field-based high-throughput plant phenotyping system
  9. 729
    “…Since the accumulation of intracellular cystine affects all organs and tissues, the management of cystinosis requires a specialized multidisciplinary team consisting of pediatricians, nephrologists, nutritionists, ophthalmologists, endocrinologists, neurologists' geneticists, and orthopedic surgeons. Treatment with cysteamine can delay or prevent most clinical manifestations of cystinosis, except the renal Fanconi syndrome. …”
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    Management of bone disease in cystinosis: Statement from an international conference
  10. 730
    “…METHODS: Semistructured interviews were carried out with pediatric oncologists, clinical geneticists, and research coordinating nurses (N = 17), followed by content analysis of transcribed interviews. …”
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    Germline whole genome sequencing in pediatric oncology in Denmark—Practitioner perspectives
  11. 731
    “…BACKGROUND: Linkage disequilibrium (LD) analysis is broadly utilized in genetics to understand the evolutionary and demographic history and helps geneticists identify genes associated with interested inherited traits, such as diseases. …”
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    LDkit: a parallel computing toolkit for linkage disequilibrium analysis
  12. 732
    “…However, this boosterism plays little attention to the challenges raised by a kind of result known as a Variant of Uncertain Significance, or VUS, which require clinical geneticists and related colleagues to classify ambiguous genomic variants as ‘benign’ or ‘pathogenic’. …”
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    Reflexive standardization and the resolution of uncertainty in the genomics clinic
  13. 733
    “…Fungi have played critical roles in studying this process because they permit tetrad analysis, which has been used by geneticists for several decades to determine meiotic recombination products. …”
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    Third-generation sequencing-based mapping and visualization of single nucleotide polymorphism, meiotic recombination, illegitimate mutation and repeat-induced point mutation
  14. 734
    “…Linking plant phenotype to genotype is a common goal to both plant breeders and geneticists. However, collecting phenotypic data for large numbers of plants remain a bottleneck. …”
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    ARADEEPOPSIS, an Automated Workflow for Top-View Plant Phenomics using Semantic Segmentation of Leaf States
  15. 735
    “…Copy number variations (CNVs) constitute an important class of variation in the human genome and the interpretation of their pathogenicity considering different frequencies across populations is still a challenge for geneticists. Since the CNV databases are predominantly composed of European and non-admixed individuals, and Brazilian genetic constitution is admixed and ethnically diverse, diagnostic screenings on Brazilian variants are greatly difficulted by the lack of populational references. …”
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    Copy number variation (CNV) identification, interpretation, and database from Brazilian patients
  16. 736
    “…Here, 11 facial traits commonly reported in Axenfeld‐Rieger syndrome were assessed by five clinical geneticists blinded to the molecular diagnosis. Individuals were drawn from the Australian and New Zealand Registry of Advanced Glaucoma in Australia or recruited through the Genetic and Ophthalmology Unit of l'Azienda Socio‐Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda in Italy. …”
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    Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variants
  17. 737
    “…PharmaKU can help to overcome several hurdles posed by previous pharmacogenomics tools, including input in hg38 format only, while hg19/GRCh37 is now the most popular reference genome assembly among clinicians and geneticists, as well as the lack of clinical recommendations and other pertinent dosage-related information. …”
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    PharmaKU: A Web-Based Tool Aimed at Improving Outreach and Clinical Utility of Pharmacogenomics
  18. 738
    “…A strong multidisciplinary approach is required to solve these obstacles and is only possible through interdisciplinary collaboration between biologists, chemists, geneticists and physicians. We position this review in light of our own perspective, as principal investigators of the SciFiMed Consortium, a consortium aiming to create a comprehensive analytical system for the quantitative and functional assessment of the entire FH protein family.…”
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    A Family Affair: Addressing the Challenges of Factor H and the Related Proteins
  19. 739
    “…With the dramatic increase of pangenomic analysis, Human geneticists have generated large amount of genomic data including millions of small variants (SNV/indel) but also thousands of structural variations (SV) mainly from next-generation sequencing and array-based techniques. …”
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    AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis
  20. 740
    “…BACKGROUND: Clinical diagnostics of whole-exome and whole-genome sequencing data requires geneticists to consider thousands of genetic variants for each patient. …”
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    VPMBench: a test bench for variant prioritization methods
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