Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Search help
110 results
  1. pdf2018NewHeadingsSingleColumn508.pdf 
    https://www.nlm.nih.gov/.../2018NewHeadingsSingleColumn508.pdf
    ... locations: Mutation G05.365.590.538 Lysine ... transcription factors. It may control gene expression changes associated with ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... page></related-gene><related-gene ><gene-symbol >NKX2-5</gene-symbol><ghr-page >https://www.ncbi.nlm.nih. ... page></related-gene><related-gene ><gene-symbol >NKX2-5</gene-symbol><ghr-page >https://www.ncbi.nlm.nih. ...
  3. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... Phosphodiesterases, Type 5 Cyclic Nucleotide Phosphodiesterases, Type 6 Activating Transcription Factor 6 Adaptor Proteins, Signal Transducing 5-Lipoxygenase-Activating Proteins 14-3-3 Proteins A ...
  4. pdfNational Library of Medicine Informatics Training Conference (June 18-19, 2013) - University of Utah 
    https://www.nlm.nih.gov/ep/documents/TC2013Program.pdf
    ... gene score. Including the scores from the top five genes in the dosing algorithm improves dosing prediction in ... The guardian of the genome is a transcription factor p53 that can activate ... response to activating p53 is not understood. I have used Global ...
  5. pdf2017NewMeshHeadingsSingleColumnWithScopeAnTree.pdf 
    https://www.nlm.nih.gov/...shHeadingsSingleColumnWithScopeAnTree.pdf
    ... functions in heart development. Mutations in the NKX2-5 gene are associated with ATRIAL SEPTAL DEFECTS and TETRALOGY ... into rod-like structures. The prion protein (PRNP) gene is characterized by five TANDEM REPEAT SEQUENCES that encode a highly unstable ...
  6. WAS-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1178
    ... by Method WAS Sequence analysis 3, 4 ~95% 5 Gene-targeted deletion/duplication analysis 6 ~5% 7 1. See Table A. Genes and Databases for chromosome locus and protein. 2. ...
  7. Costello Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1507
    ... affect amino acid p.Gly12 or p.Gly13. 5. Gene-targeted deletion/duplication analysis detects intragenic deletions or ... Syndrome: Genes and Databases View in own window Gene Chromosome Locus Protein HGMD ClinVar HRAS 11p15 ​.5 GTPase HRas HRAS HRAS Data are compiled from ...
  8. EZH2-Related Overgrowth - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK148820
    ... Usemann et al 2016 , Lui et al 2018 ]. 5. Gene-targeted deletion/duplication analysis detects intragenic deletions or ... issues Beckwith-Wiedeman syndrome (BWS) Abnormal regulation of gene transcription in two imprinted domains at 11p15.5 5 Footnote 6 ↑ birth weight Tall stature (not ...
  9. ZAP70-Related Combined Immunodeficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK20221
    ... Gavino et al [2017] , Shirkani et al [2017] 5. Gene-targeted deletion/duplication analysis detects intragenic deletions or ... deficiency. J Allergy Clin Immunol. 2013; 131 :1233–5. [ PubMed : ... [ PubMed : 15269708 ] Mancebo ...
  10. NLM Digital Collections - Annual report - National Eye Institute (1994) 
    Publication: [Bethesda, Md.] : National Eye Institute
    resource.nlm.nih.gov/7802080X21
    ... 6-crystallin genes in the chicken, with the 5' gene being special- ized for expression in the lens. The 5' gene encodes a polypeptide that lacks ASL activity; the ...
first · previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next · last