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7 results
  1. Huntington Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1305
    ... these additional genomic modifiers, both at the HTT locus and throughout the genome. Cis -acting factors. The most common CAG repeat tract (>95% ...
  2. Kindler Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK349072
    ... the first noncoding exon and flanking intron comprised cis-acting elements that are crucial for transcription [ Has et ...
  3. Hemophilia B - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1495
    ... see also Genotype-Phenotype Correlations and Table A , Locus-Specific Databases ). 6. Mitchell et al [2010] ; Goodeve [ ... variants (see Genotype-Phenotype Correlations and Table A , Locus-Specific Databases ). At times, the onset of an ...
  4. Genetics of Breast and Gynecologic Cancers (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65767
    ... CI, 2.25–3.36). The ORs and CIs in unselected, familial, and early-onset breast cancer ... in the form of odds ratios with 95% CIs. b Reports risk estimates in the form of ...
  5. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... provides instructions for making an enzyme called 11-cis retinol dehydrogenase 5, which is necessary for normal ... eye (the fundus).</html:p><html:p >11-cis retinol dehydrogenase 5 is involved in a multi- ...
  6. Cystic Fibrosis and Congenital Absence of the Vas Deferens - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1250
    ... CF-causing variant plus the 5T variant in cis with p.Arg117His usually develop the lung disease ... Airway clearance 5. Inhaled corticosteroids and/or long-acting beta agonist (for select individuals) 6. Aerosolized antibiotic ...
  7. PSYCHOLOGICAL AND PSYCHOSOCIAL TREATMENTS IN THE MANAGEMENT OF BORDERLINE PERSONALITY DISORDER - Borderline Personality ... 
    https://www.ncbi.nlm.nih.gov/books/NBK55410
    ... time-limited placements. Within these treatment settings, the acting-out behaviour of the patient is valued as ... of hospitalisation post-admission ( WMD = 46.30; 95% CIs 7.75, 84.85). However, the CIs are ...