27 Matching Annotations
  1. Apr 2024
  2. 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
    1
    1. scibot 10 Apr 2024
      RRID:SCR_006437

      DOI: 10.1038/s41598-024-56303-y

      Resource: OMIM (RRID:SCR_006437)

      Curator: @scibot

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRID:SCR_006437
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC10997614/
  3. Dec 2023
  4. 52.53.155.43 52.53.155.43
    physiolgenomics.00070.2023-html.html
    1
    1. scibot 01 Dec 2023
      RRID:SCR_006437

      DOI: 10.6084/m9.figshare.23598732.v4

      Resource: OMIM (RRID:SCR_006437)

      Curator: @scibot

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRID:SCR_006437
    Visit annotations in context

    Tags

    Annotators

    URL

    52.53.155.43/37a553f0bc437dc481c95fcb3601b715ab4e52f5/physiolgenomics.00070.2023-html.html
  5. journals.physiology.org journals.physiology.org
    Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease
    1
    1. scibot 01 Dec 2023
      RRID:SCR_006437

      DOI: 10.1152/physiolgenomics.00070.2023

      Resource: OMIM (RRID:SCR_006437)

      Curator: @scibot

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRID:SCR_006437
    Visit annotations in context

    Tags

    Annotators

    URL

    journals.physiology.org/doi/10.1152/physiolgenomics.00070.2023
  6. 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
    1
    1. scibot 01 Dec 2023
      RRID:SCR_006437

      DOI: 10.21203/rs.3.rs-3471389/v1

      Resource: OMIM (RRID:SCR_006437)

      Curator: @scibot

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRID:SCR_006437
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC10635367/
  7. Jul 2023
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    SODAR: managing multiomics study data and metadata
    1
    1. scibot 29 Jul 2023
      RRID:SCR_006437

      DOI: 10.1093/gigascience/giad052

      Resource: OMIM (RRID:SCR_006437)

      Curator: @scibot

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRID:SCR_006437
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC10373112/
  9. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Biallelic variants in MAD2L1BP (p31comet) cause female infertility characterized by oocyte maturation arrest
    1
    1. scibot 06 Jul 2023
      RRID:SCR_006437

      DOI: 10.7554/eLife.85649

      Resource: OMIM (RRID:SCR_006437)

      Curator: @scibot

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRID:SCR_006437
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC10319434/
  10. May 2023
  11. 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
    1
    1. scibot 11 May 2023
      RRID:SCR_006437

      DOI: 10.3389/fcell.2023.1091666

      Resource: OMIM (RRID:SCR_006437)

      Curator: @scibot

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRID:SCR_006437
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC10165499/
  12. Feb 2023
  13. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia
    1
    1. scibot 08 Feb 2023
      RRID:SCR_006437

      DOI: 10.1002/mgg3.2146

      Resource: OMIM (RRID:SCR_006437)

      Curator: @scibot

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRID:SCR_006437
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/10.1002/mgg3.2146
  14. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Cellular mechanism of action of forsythiaside for the treatment of diabetic kidney disease
    1
    1. scibot 01 Feb 2023
      RRID:SCR_006437

      DOI: 10.3389/fphar.2022.1096536

      Resource: OMIM (RRID:SCR_006437)

      Curator: @scibot

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRID:SCR_006437
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC9880420/
  15. May 2022
  16. 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.
    1
    1. scibot 21 May 2022
      RRID:SCR_006437

      DOI: 10.12688/f1000research.110194.1

      Resource: OMIM (RRID:SCR_006437)

      Curator: @scibot

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRID:SCR_006437
    Visit annotations in context

    Tags

    Annotators

    URL

    f1000research.com/articles/11-530
  17. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Bioinformatic Analysis of the Perilymph Proteome to Generate a Human Protein Atlas
    1
    1. scibot 18 May 2022
      RRID:SCR_006437

      DOI: 10.3389/fcell.2022.847157

      Resource: OMIM (RRID:SCR_006437)

      Curator: @scibot

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRID:SCR_006437
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC9096870/
  18. Feb 2022
  19. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Solitary Median Maxillary Central Incisor Syndrome: An Exploration of the Pathogenic Mechanism
    2
    1. scibot 11 Feb 2022
      RRID:SCR_006437

      DOI: 10.3389/fgene.2022.780930

      Resource: OMIM (RRID:SCR_006437)

      Curator: @scibot

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRID:SCR_006437
    2. scibot 10 Feb 2022
      RRID:SCR_006437

      DOI: 10.3389/fgene.2022.780930

      Resource: OMIM (RRID:SCR_006437)

      Curator: @scibot

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRID:SCR_006437
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC8819842/
  20. Aug 2021
  21. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Untitled document
    1
    1. scibot 04 Aug 2021
      SCR_006437

      DOI: 10.1002/brb3.1134

      Resource: OMIM (RRID:SCR_006437)

      Curator: @scibot

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRID:SCR_006437
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6236233/
  22. Jul 2021
  23. www.nature.com www.nature.com
    ABCC9 -related Intellectual disability Myopathy Syndrome is a K ATP channelopathy with loss-of-function mutations in ABCC9
    1
    1. scibot 30 Jul 2021
      OMIM

      DOI: 10.1038/s41467-019-12428-7

      Resource: OMIM (RRID:SCR_006437)

      Curator: @Naa003

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRID:SCR_006437 RRIDCUR:Missing
    Visit annotations in context

    Tags

    Annotators

    URL

    nature.com/articles/s41467-019-12428-7
  24. www.sciencedirect.com www.sciencedirect.com
    A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation
    1
    1. scibot 29 Jul 2021
      RRID:SCR_006437

      DOI: 10.1016/j.neuron.2019.06.011

      Resource: OMIM (RRID:SCR_006437)

      Curator: @ethanbadger

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRID:SCR_006437
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0896627319305616
  25. Mar 2021
  26. academic.oup.com academic.oup.com
    Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma
    1
    1. scibot 03 Mar 2021
      RRID:SCR_006437

      DOI: 10.1093/hmg/ddaa268

      Resource: OMIM (RRID:SCR_006437)

      Curator: @Naa003

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRID:SCR_006437 RRIDCUR:Validated
    Visit annotations in context

    Tags

    Annotators

    URL

    academic.oup.com/hmg/article/29/22/3679/6035190
  27. Sep 2020
  28. 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
    1
    1. scibot 16 Sep 2020
      RRID:SCR_006437

      DOI: 10.1074/jbc.RA120.012983

      Resource: OMIM (RRID:SCR_006437)

      Curator: @evieth

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRIDCUR:Validated RRID:SCR_006437
    Visit annotations in context

    Tags

    Annotators

    URL

    jbc.org/content/295/29/9768.long
  29. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Building the vertebrate codex using the gene breaking protein trap library
    1
    1. scibot 16 Sep 2020
      RRID:SCR_006437

      DOI: 10.7554/eLife.54572

      Resource: OMIM (RRID:SCR_006437)

      Curator: @evieth

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRIDCUR:Validated RRID:SCR_006437
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7486118/
  30. www.sciencedirect.com www.sciencedirect.com
    The Alazami Syndrome-Associated Protein LARP7 Guides U6 Small Nuclear RNA Modification and Contributes to Splicing Robustness
    1
    1. scibot 11 Sep 2020
      RRID:SCR_006437

      DOI: 10.1016/j.molcel.2020.01.001

      Resource: OMIM (RRID:SCR_006437)

      Curator: @ethanbadger

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRIDCUR:Validated RRID:SCR_006437
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S1097276520300010
  31. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel and de novo point and large microdeletion mutation in PRRT2‐related epilepsy
    1
    1. scibot 11 Sep 2020
      RRID:SCR_006437

      DOI: 10.1002/brb3.1597

      Resource: OMIM (RRID:SCR_006437)

      Curator: @Naa003

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRIDCUR:Validated RRID:SCR_006437
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/10.1002/brb3.1597
  32. www.sciencedirect.com www.sciencedirect.com
    Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains
    1
    1. scibot 09 Sep 2020
      RRID:SCR_006437

      DOI: 10.1016/j.celrep.2020.108050

      Resource: OMIM (RRID:SCR_006437)

      Curator: @Naa003

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRID:SCR_006437 RRIDCUR:Validated
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S2211124720310354
  33. www.sciencedirect.com www.sciencedirect.com
    Non-Canonical Caspase Activity Antagonizes p38 MAPK Stress-Priming Function to Support Development
    1
    1. scibot 04 Sep 2020
      RRID: SCR_006437

      DOI: 10.1016/j.devcel.2020.03.015

      Resource: OMIM (RRID:SCR_006437)

      Curator: @ethanbadger

      SciCrunch record: RRID:SCR_006437

      What is this?
      RRID:SCR_006437
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S1534580720302240
  34. Jan 2020
  35. www.sciencedirect.com www.sciencedirect.com
    Key genes associated with diabetes mellitus and hepatocellular carcinoma
    1
    1. scibot 13 Jan 2020
      RRID:SCR_006437

      DOI: 10.1016/j.prp.2019.152510

      Resource: OMIM (RRID:SCR_006437)

      Curator: @ethanbadger

      SciCrunch record: RRID:SCR_006437

      What is this?

      RRID:SCR_006437 RRIDCUR:Validated
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0344033819307551
  36. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Untitled document
    1
    1. scibot 12 Jan 2020
      RRID:SCR_006437

      DOI: 10.3389/fphys.2019.00154

      Resource: OMIM (RRID:SCR_006437)

      Curator: @evieth

      SciCrunch record: RRID:SCR_006437

      What is this?

      RRID:SCR_006437 RRIDCUR:Validated
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6399412/
  37. Nov 2018
  38. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Untitled document
    1
    1. scibot 05 Nov 2018
      RRID:SCR_006437

      Resource used:

      (OMIM, RRID:SCR_006437)

      SciCrunch record: RRID:SCR_006437

      Alternate resolvers: SciCrunch xml N2T identifiers.org

      What is this?

      RRID:SCR_006437
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/full/10.1002/brb3.1134
  39. europepmc.org europepmc.org
    A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.
    1
    1. scibot 05 Nov 2018
      RRID:SCR_006437

      Curator: @evieth

      Resource used:

      (OMIM, RRID:SCR_006437)

      SciCrunch record: RRID:SCR_006437

      Alternate resolvers: SciCrunch xml N2T identifiers.org

      What is this?

      RRID:SCR_006437 RRIDCUR:Validated
    Visit annotations in context

    Tags

    Annotators

    URL

    europepmc.org/articles/PMC5764568/