يعرض 1 - 20 نتائج من 60 نتيجة بحث عن '"structural variants (SVs)"', وقت الاستعلام: 0.52s تنقيح النتائج
  1. 1
    Academic Journal

    المصدر: Molecular Neurodegeneration, Vol 19, Iss 1, Pp 1-16 (2024)

    وصف الملف: electronic resource

  2. 2
    Academic Journal

    المساهمون: Pathology and Laboratory Medicine, School of Medicine

    المصدر: PMC

    وصف الملف: application/pdf

    Relation: Molecular Neurodegeneration; https://hdl.handle.net/1805/43969

  3. 3
    Academic Journal

    المساهمون: Pathology and Laboratory Medicine, School of Medicine

    المصدر: PMC

    وصف الملف: application/pdf

    Relation: Molecular Neurodegeneration; https://hdl.handle.net/1805/44603

  4. 4
  5. 5
    Academic Journal
  6. 6
    Academic Journal

    المساهمون: School of Plant Sciences, Arizona Genomics Institute, University of Arizona

    المصدر: Genome Biology and Evolution

    Relation: Jullien M Flynn, Yasir H Ahmed-Braimah, Manyuan Long, Rod A Wing, Andrew G Clark, High-Quality Genome Assemblies Reveal Evolutionary Dynamics of Repetitive DNA and Structural Rearrangements in the Drosophila virilis Subgroup, Genome Biology and Evolution, Volume 16, Issue 1, January 2024, evad238, https://doi.org/10.1093/gbe/evad238; http://hdl.handle.net/10150/671705; Genome Biology and Evolution

  7. 7
    Academic Journal

    المؤلفون: Farrar, Gwyneth

    Relation: Genetics in Medicine; 100345; de Bruijn, S.E. and Rodenburg, K. and Corominas, J. and Ben-Yosef, T. and Reurink, J. and Kremer, H. and Whelan, L. and Plomp, A.S. and Berger, W. and Farrar, G.J. and Ferenc Kov??cs, ??. and Fajardy, I. and Hitti-Malin, R.J. and Weisschuh, N. and Weener, M.E. and Sharon, D. and Pennings, R.J.E. and Haer-Wigman, L. and Hoyng, C.B. and Nelen, M.R. and Vissers, L.E.L.M. and van den Born, L.I. and Gilissen, C. and Cremers, F.P.M. and Hoischen, A. and Neveling, K. and Roosing, S., Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes, Genetics in Medicine, 2023 Mar;25(3):100345; Y; http://hdl.handle.net/2262/102709; http://people.tcd.ie/gjfarrar; 251066; http://dx.doi.org/10.1016/j.gim.2022.11.013

  8. 8
    Academic Journal

    المصدر: Genes; Volume 14; Issue 5; Pages: 1016

    جغرافية الموضوع: agris

    وصف الملف: application/pdf

    Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14051016

  9. 9
    Academic Journal

    المساهمون: Zeuli, Roberta, Karali, Marianthi, de Bruijn, Suzanne E, Rodenburg, Kim, Scarpato, Margherita, Capasso, Dalila, Astuti, Galuh D N, Gilissen, Christian, Rodríguez-Hidalgo, María, Ruiz-Ederra, Javier, Testa, Francesco, Simonelli, Francesca, Cremers, Frans P M, Banfi, Sandro, Roosing, Susanne

    Relation: info:eu-repo/semantics/altIdentifier/pmid/38816995; journal:HGG ADVANCES; https://hdl.handle.net/11591/527669

  10. 10
    Academic Journal
  11. 11
  12. 12
    Image
  13. 13
  14. 14
  15. 15
    Academic Journal

    المساهمون: Cretu Stancu, Mircea, Van Roosmalen, Markus J, Renkens, Ivo, Nieboer, Marleen M, Middelkamp, Sjor, De Ligt, Joep, Pregno, Giulia, Giachino, Daniela Francesca, Mandrile, Giorgia, Espejo Valle-inclan, Jose, Korzelius, Jerome, De Bruijn, Ewart, Cuppen, Edwin, Talkowski, Michael E, Marschall, Tobia, De Ridder, Jeroen, Kloosterman, Wigard P.

    Relation: info:eu-repo/semantics/altIdentifier/pmid/29109544; info:eu-repo/semantics/altIdentifier/wos/WOS:000414422100011; volume:8; issue:1; firstpage:1326_1; lastpage:1326_13; numberofpages:13; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/2318/1651455; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85032888616; https://www.nature.com/articles/s41467-017-01343-4.pdf; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673902/

  16. 16
  17. 17
  18. 18
    Image
  19. 19
  20. 20
    Image