14 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Single-cell whole-genome sequencing reveals convergent evolution in Burkitt lymphoma
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    pmc.ncbi.nlm.nih.gov/articles/PMC13402838/
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening
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    pmc.ncbi.nlm.nih.gov/articles/PMC13400782/
  4. Apr 2025
  5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition
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    pmc.ncbi.nlm.nih.gov/articles/PMC11995001/
  6. Feb 2025
  7. 52.53.155.43 52.53.155.43
    PDF-html.html
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    52.53.155.43/3f15b87d98f941e9a84b5e41f881bf902254c0f2/PDF-html.html
  8. aacrjournals.org aacrjournals.org
    A novel human SDHA‑knockout cell line model for the functional analysis of clinically‑relevant SDHA variants
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    aacrjournals.org/clincancerres/article/30/23/5399/750191/A-Novel-Human-SDHA-Knockout-Cell-Line-Model-for
  9. www.cell.com www.cell.com
    Individualized patient tumor organoids faithfully preserve human brain tumor ecosystems and predict patient response to therapy
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    cell.com/cell-stem-cell/fulltext/S1934-5909(25)00002-5
  10. Jun 2023
  11. 52.53.155.43 52.53.155.43
    Rare heterozygous loss-of-function variants in the human GLP-1 receptor do not associate with cardiometabolic phenotypes
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    52.53.155.43/0d8a8326e207e02308b62f547ab272752606f288/dgad290-html.html
  12. Apr 2022
  13. www.sciencedirect.com www.sciencedirect.com
    Uncompensated mitochondrial oxidative stress underlies heart failure in an iPSC-derived model of congenital heart disease
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    sciencedirect.com/science/article/pii/S1934590922001011
  14. Oct 2021
  15. link.springer.com link.springer.com
    Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss
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    link.springer.com/article/10.1007/s00439-021-02372-2
  16. Jul 2021
  17. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism
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    ncbi.nlm.nih.gov/pmc/articles/PMC6620045/
  18. Mar 2021
  19. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples
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    ncbi.nlm.nih.gov/pmc/articles/PMC7930628/
  20. Jan 2020
  21. www.sciencedirect.com www.sciencedirect.com
    A Patient-Derived Glioblastoma Organoid Model and Biobank Recapitulates Inter- and Intra-tumoral Heterogeneity
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    sciencedirect.com/science/article/pii/S0092867419313212
  22. Nov 2017
  23. www.sciencedirect.com www.sciencedirect.com
    Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation
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    sciencedirect.com/science/article/pii/S0092867417302416