Showing 441 - 460 results of 1,417 for search '"genetics"', query time: 0.05s Refine Results
  1. 441
  2. 442

    Exploiting somatic oncogenic driver alterations in a patient with Li-Fraumeni syndrome– paving the path towards precision medicine: a case report by Carolin Seeling, Sonja Dahlum, Ralf Marienfeld, Vera Jan, Brigitte Rack, Uwe Gerstenmaier, Ambros J. Beer, Regine Mayer-Steinacker, Wolfgang Thaiss, Thomas F. E. Barth, Thomas Seufferlein, Nadine T. Gaisa, Stephan Stilgenbauer, Wolfgang Janni, Reiner Siebert, Hartmut Döhner, Verena I. Gaidzik

    Published 2025-01-01
    “…Case presentation We present the case of a woman with breast cancer and subsequent osteosarcoma, both treated with surgery and chemotherapy. Constitutional genetic germline testing identified a pathogenic TP53 variant in line with the clinical features of Li-Fraumeni syndrome. …”
    Get full text
    Article
  3. 443

    Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN by Jovita Patricija Druta, Gunda Petraitytė, Aušra Sasnauskienė, Eglė Preikšaitienė

    Published 2024-12-01
    “…Progerias are rare hereditary genetic disorders that cause the onset of aging to occur earlier than generally expected, which initiates the progression of many age-related diseases. …”
    Get full text
    Article
  4. 444

    Triplet Pregnancy with Partial Hydatidiform Mole Coexisting with Two Fetuses after Ovulation Induction and Intrauterine Insemination by Mehmet Serdar Kütük, Mehmet Dolanbay, Hilal Akalın, Mahmut Tuncay Özgün, Turhan Öktem, Munis Dündar, Ercan Aygen

    Published 2015-12-01
    “…After the abortion, the pathologic evaluation suggested partial mole, and genetic evaluation confirmed the diagnosis. The postpartum course complicated with persistent trophoblastic disease that well responded to four course of methotrexate therapy. …”
    Get full text
    Article
  5. 445
  6. 446
  7. 447
  8. 448

    Ross and Wilson Anatomy & Physiology in Health and Illness / by Waugh, Anne, Grant, Allison (Allison Wynn), 1961-

    Published 2014
    Table of Contents: “…Introduction to the human body -- Introduction to the chemistry of life -- The cells, tissues and organisation of the body -- The blood -- The cardiovascular system -- The lymphatic system -- The nervous system -- The special senses -- The endocrine system -- The respiratory system -- Introduction to nutrition -- The digestive system -- The urinary system -- The skin -- Resistance and immunity -- The musculoskeletal system -- Introduction to genetics -- The reproductive systems.…”
    View in OPAC
    Book
  9. 449
  10. 450
  11. 451
  12. 452

    Nelson textbook of pediatrics.

    Published 2011
    Table of Contents: “…IX: The acutely ill child -- Pt. X: Human genetics -- Pt. XI: Genetic disorders of metabolism -- Pt. …”
    View in OPAC
    Book
  13. 453
  14. 454
  15. 455

    PaleoProPhyler: a reproducible pipeline for phylogenetic inference using ancient proteins by Patramanis, Ioannis, Ramos-Madrigal, Jazmín, Cappellini, Enrico, Racimo, Fernando

    Published 2023-11-01
    “…The pipeline can not only process various forms of proteomic data, but also easily harness genetic data in different formats (CRAM, BAM, VCF) and translate it, allowing the user to create reference panels for phyloproteomic analyses. …”
    Get full text
    Article
  16. 456
  17. 457

    The landscape of nucleotide diversity in Drosophila melanogaster is shaped by mutation rate variation by Barroso, Gustavo V, Dutheil, Julien Y

    Published 2023-04-01
    “…In doing so, our model captures the effects of genetic drift, linked selection and local mutation rates on patterns of genomic variation. …”
    Get full text
    Article
  18. 458
  19. 459
  20. 460

    The Florida Bull Test 2011-2012 by G. Cliff Lamb, Nicolas DiLorenzo

    Published 2012-12-01
    “…By controlling the environmental factors and taking Expected Progeny Differences (EPD’s) into account, the data clearly emphasizes the dual importance of genetics and environment in all cattle types. This 5-page fact sheet presents the procedures, rules, and results of the 2011-2012 test. …”
    Get full text
    Article