36 Matching Annotations
  1. Last 7 days
  2. bpspubs.onlinelibrary.wiley.com bpspubs.onlinelibrary.wiley.com
    BPS Publications
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    bpspubs.onlinelibrary.wiley.com/doi/10.1111/bph.70222
  3. Nov 2025
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort
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    pmc.ncbi.nlm.nih.gov/articles/PMC12580210/
  5. Sep 2025
  6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A novel MAP7D1 mutation causes mitotic defects and RPS14 accumulation in Shwachman−Diamond syndrome patient cells
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    pmc.ncbi.nlm.nih.gov/articles/PMC12421802/
  7. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Cell Settling, Migration, and Stochastic Cancer Gene Expression Suggest Potassium Membrane Flux May Initiate pH Reversal
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    pmc.ncbi.nlm.nih.gov/articles/PMC12384032/
  8. Jul 2025
  9. www.biorxiv.org www.biorxiv.org
    Cell Settling, Migration, and Stochastic Cancer Expression Suggest Potassium Flux Per H+- Sensitive KCN Members Associated with Oncogenes and Histone/DNA Modulators Potentially Initiates pH-Reversal
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    biorxiv.org/content/10.1101/2025.06.29.662144v2
  10. May 2025
  11. www.sciencedirect.com www.sciencedirect.com
    Identification of a growth-promoting gene cluster in the region 2q24 as a driver of tumorigenesis in childhood hepatoblastoma
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    sciencedirect.com/science/article/pii/S0002944025001476
  12. Jan 2025
  13. link.springer.com link.springer.com
    Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search
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    link.springer.com/article/10.1007/s00439-024-02719-5
  14. Dec 2024
  15. www.mdpi.com www.mdpi.com
    Biliverdinuria Caused by Exonic BLVRA Deletions in Two Dogs with Green Urine
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    mdpi.com/2073-4425/15/12/1561
  16. Nov 2024
  17. www.sciencedirect.com www.sciencedirect.com
    Dachengqi decoction ameliorated liver injury in liver fibrosis mice by maintaining gut vascular barrier integrity
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    sciencedirect.com/science/article/pii/S0944711324009280
  18. Apr 2024
  19. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The role of genetic polymorphisms in the sulfation of pregnenolone by human cytosolic sulfotransferase SULT2B1a
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    ncbi.nlm.nih.gov/pmc/articles/PMC10997614/
  20. Dec 2023
  21. 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
  22. journals.physiology.org journals.physiology.org
    Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease
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    journals.physiology.org/doi/10.1152/physiolgenomics.00070.2023
  23. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The role of genetic polymorphisms in the sulfation of pregnenolone by human cytosolic sulfotransferase SULT2B1a
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    ncbi.nlm.nih.gov/pmc/articles/PMC10635367/
  24. Jul 2023
  25. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    SODAR: managing multiomics study data and metadata
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    ncbi.nlm.nih.gov/pmc/articles/PMC10373112/
  26. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Biallelic variants in MAD2L1BP (p31comet) cause female infertility characterized by oocyte maturation arrest
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    ncbi.nlm.nih.gov/pmc/articles/PMC10319434/
  27. May 2023
  28. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Analysis of candidate genes for cleft lip ± cleft palate using murine single-cell expression data
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    ncbi.nlm.nih.gov/pmc/articles/PMC10165499/
  29. Feb 2023
  30. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia
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    onlinelibrary.wiley.com/doi/10.1002/mgg3.2146
  31. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Cellular mechanism of action of forsythiaside for the treatment of diabetic kidney disease
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    ncbi.nlm.nih.gov/pmc/articles/PMC9880420/
  32. May 2022
  33. f1000research.com f1000research.com
    F1000Research Article: The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms.
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    f1000research.com/articles/11-530
  34. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Bioinformatic Analysis of the Perilymph Proteome to Generate a Human Protein Atlas
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    ncbi.nlm.nih.gov/pmc/articles/PMC9096870/
  35. Feb 2022
  36. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Solitary Median Maxillary Central Incisor Syndrome: An Exploration of the Pathogenic Mechanism
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    ncbi.nlm.nih.gov/pmc/articles/PMC8819842/
  37. Aug 2021
  38. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Untitled document
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    ncbi.nlm.nih.gov/pmc/articles/PMC6236233/
  39. Jul 2021
  40. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ABCC9 -related Intellectual disability Myopathy Syndrome is a K ATP channelopathy with loss-of-function mutations in ABCC9
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    ncbi.nlm.nih.gov/pmc/articles/PMC6773855/
  41. www.sciencedirect.com www.sciencedirect.com
    A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation
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    sciencedirect.com/science/article/pii/S0896627319305616
  42. Mar 2021
  43. academic.oup.com academic.oup.com
    Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma
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    academic.oup.com/hmg/article/29/22/3679/6035190
  44. Sep 2020
  45. www.jbc.org www.jbc.org
    FACS-array–based cell purification yields a specific transcriptome of striatal medium spiny neurons in a murine Huntington disease model
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    jbc.org/content/295/29/9768.long
  46. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Building the vertebrate codex using the gene breaking protein trap library
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    ncbi.nlm.nih.gov/pmc/articles/PMC7486118/
  47. www.sciencedirect.com www.sciencedirect.com
    The Alazami Syndrome-Associated Protein LARP7 Guides U6 Small Nuclear RNA Modification and Contributes to Splicing Robustness
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    sciencedirect.com/science/article/pii/S1097276520300010
  48. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel and de novo point and large microdeletion mutation in PRRT2‐related epilepsy
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    onlinelibrary.wiley.com/doi/10.1002/brb3.1597
  49. www.sciencedirect.com www.sciencedirect.com
    Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains
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    sciencedirect.com/science/article/pii/S2211124720310354
  50. www.sciencedirect.com www.sciencedirect.com
    Non-Canonical Caspase Activity Antagonizes p38 MAPK Stress-Priming Function to Support Development
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    sciencedirect.com/science/article/pii/S1534580720302240
  51. Jan 2020
  52. www.sciencedirect.com www.sciencedirect.com
    Key genes associated with diabetes mellitus and hepatocellular carcinoma
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    sciencedirect.com/science/article/pii/S0344033819307551
  53. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Untitled document
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    ncbi.nlm.nih.gov/pmc/articles/PMC6399412/
  54. Nov 2018
  55. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Untitled document
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    onlinelibrary.wiley.com/doi/full/10.1002/brb3.1134
  56. europepmc.org europepmc.org
    A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.
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    europepmc.org/articles/PMC5764568/