17 Matching Annotations
  1. Jan 2025
  2. physoc.onlinelibrary.wiley.com physoc.onlinelibrary.wiley.com
    Skin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel function
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    physoc.onlinelibrary.wiley.com/doi/10.1113/JP286367
  3. Aug 2024
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Deciphering cancer genomes with GenomeSpy: a grammar-based visualization toolkit
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    ncbi.nlm.nih.gov/pmc/articles/PMC11299109/
  5. Jan 2024
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The Evolution of Polyclonal Antibody from Specific Epitope 47kDA for Detection of Bladder Cancer
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    ncbi.nlm.nih.gov/pmc/articles/PMC10762744/
  7. Dec 2023
  8. www.sciencedirect.com www.sciencedirect.com
    Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review
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    sciencedirect.com/science/article/pii/S1059131123003230
  9. 52.53.155.43 52.53.155.43
    physiolgenomics.00070.2023-html.html
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    52.53.155.43/37a553f0bc437dc481c95fcb3601b715ab4e52f5/physiolgenomics.00070.2023-html.html
  10. Oct 2023
  11. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas
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    ncbi.nlm.nih.gov/pmc/articles/PMC10560290/
  12. Aug 2023
  13. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Distinct mechanisms of mismatch repair deficiency delineate two modes of response to PD-1 immunotherapy in endometrial carcinoma
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    ncbi.nlm.nih.gov/pmc/articles/PMC9905265/
  14. Jun 2023
  15. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A platform for efficient establishment and drug-response profiling of high-grade serous ovarian cancer organoids
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    ncbi.nlm.nih.gov/pmc/articles/PMC10281085/
  16. May 2023
  17. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    High carrier frequency of pathogenic PATL2 gene mutations predicted in population: a bioinformatics-based approach
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    ncbi.nlm.nih.gov/pmc/articles/PMC10225684/
  18. Nov 2022
  19. www.sciencedirect.com www.sciencedirect.com
    Reconstructing mutational lineages in breast cancer by multi-patient-targeted single-cell DNA sequencing
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    sciencedirect.com/science/article/pii/S2666979X22001689
  20. Oct 2022
  21. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2
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    ncbi.nlm.nih.gov/pmc/articles/PMC9579345/
  22. Jun 2022
  23. link.springer.com link.springer.com
    Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK Biobank
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    link.springer.com/article/10.1186/s12915-022-01349-5
  24. Apr 2022
  25. link.springer.com link.springer.com
    Four novel mutations in the androgen receptor gene from Vietnamese patients with androgen insensitivity syndrome
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    link.springer.com/article/10.1007/s13258-022-01249-6
  26. Jul 2021
  27. www.sciencedirect.com www.sciencedirect.com
    Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis
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    sciencedirect.com/science/article/pii/S2211124721006914
  28. May 2021
  29. www.sciencedirect.com www.sciencedirect.com
    Identification of genetic biomarkers in urine for early detection of prostate cancer
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    sciencedirect.com/science/article/pii/S0147027220301033
  30. Feb 2021
  31. elifesciences.org elifesciences.org
    Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy
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    elifesciences.org/articles/64434
  32. Sep 2020
  33. elifesciences.org elifesciences.org
    Moyamoya disease factor RNF213 is a giant E3 ligase with a dynein-like core and a distinct ubiquitin-transfer mechanism
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    elifesciences.org/articles/56185