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.

Because of a lapse in government funding, the information on this website may not be up to date, transactions submitted via the website may not be processed, and the agency may not be able to respond to inquiries until appropriations are enacted. The NIH Clinical Center (the research hospital of NIH) is open. For more details about its operating status, please visit cc.nih.gov. Updates regarding government operating status and resumption of normal operations can be found at opm.gov.

Search help

202 results

  1. pdffy2002.pdf 
    https://www.nlm.nih.gov/ocpl/anreports/fy2002.pdf
    ... with NR_ was added to RefSeq and represents non-protein coding RNAs. The most common forms of sequence variations are single nucleotide polymorphisms, or SNPs. SNP detection and discovery is expected to facilitate ...
  2. Excluded Studies - Medical Therapies for Children With Autism Spectrum Disorder—An Update - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK448263
    ... Ma WJ, Hashii M, Munesue T, et al. Non-synonymous single-nucleotide variations of the human oxytocin receptor ... Pastori C, Zeier Z, et al. The long non-coding RNA FMR4 promotes proliferation of human neural precursor ...
  3. Excluded Studies - Interventions Targeting Sensory Challenges in Children With Autism Spectrum Disorder—An Update - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK448045
    ... Ma WJ, Hashii M, Munesue T, et al. Non-synonymous single-nucleotide variations of the human oxytocin receptor ... Pastori C, Zeier Z, et al. The long non-coding RNA FMR4 promotes proliferation of human neural precursor ...
  4. pdfNational Library of Medicine Programs and Services FY2014 
    https://www.nlm.nih.gov/ocpl/anreports/fy2014.pdf
    ... Los Angeles Gerek, Zeynep N Computational diagnosis of non-synonymous variations using structural dynamics 1 R21 LM011941-01 ...
  5. GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes - GeneReviews® - NCBI ... 
    https://www.ncbi.nlm.nih.gov/books/NBK1374
    ... variants in the upstream regulatory region, 5'UTR, non-coding exons, and 3'UTR are frequently associated with ... regulatory region, 5' untranslated region, splice junctions of non-coding exons, and 3' untranslated region [ Ionasescu et al ...
  6. RNU4atac-opathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK589232
    ... Protein HGMD ClinVar RNU4ATAC 2q14 ​.2 N/A (non-coding RNA) RNU4ATAC RNU4ATAC Data are compiled from the ... Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene. PLoS One. 2020;15:e0235655. [ PMC ...
  7. Glucose Transporter Type 1 Deficiency Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1430
    ... Scheffer IE, Hildebrand MS; Clinical Group. Evaluation of non-coding variation in GLUT1 deficiency. Dev Med Child Neurol. ...
  8. Genetics of Skin Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65895
    ... of CDKN2A pathogenic variants looked at four common non-synonymous MC1R variants and found that having one variant ...
  9. Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK84550
    ... B, Lee B. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol ...
  10. NKX2-1-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK185066
    ... A, Yatsenko SA, Surti U. Deletion of conserved non-coding sequences downstream from NKX2-1: a novel disease- ...
first · previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next · last