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299 results

  1. Ornithine transcarbamylase deficiency 
    https://medlineplus.gov/.../ornithine-transcarbamylase-deficiency
    ... transcarbamylase enzyme.Ornithine transcarbamylase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. It ...
  2. MESP2 gene 
    https://medlineplus.gov/genetics/gene/mesp2
    ... spondylothoracic dysostosis. More About This Health Condition bHLHc6 class C basic helix-loop-helix protein 6 mesoderm ... Notch signaling occurs via the destabilization of mastermind-like 1 by Mesp2 and is essential for somitogenesis. ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... instructions for making immune system proteins called MHC class I proteins. Like MHC class II proteins, MHC class I proteins ... instructions for making immune system proteins called MHC class I proteins. Like MHC class II proteins, MHC class I proteins ...
  4. HFE-Related Hemochromatosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1440
    ... NJ, Bacon BR, Wolff RK. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. ...
  5. RNU4atac-opathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK589232
    ... introns by different splice site and branch point sequences. Like the major spliceosomes, the minor spliceosomes are a ...
  6. Childhood Cancer Genomics (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK374260
    ... responses to various TKIs by type of ABL-class fusion. BCR :: ABL1 -like ALL cases with non- CRLF2 genomic alterations represent ... intrachromosomal amplification of the RUNX1 gene [iAMP21], ABL-class fusions, Philadelphia chromosome-like, KMT2A -rearranged/like, near haploid, and low haploid) ...
  7. Spastic Paraplegia 3A - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK45978
    ... N, Prinz WA, Rapoport TA, Blackstone C. A class of dynamin-like GTPases involved in the generation of the tubular ...
  8. Childhood Acute Lymphoblastic Leukemia Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65763
    ... responses to various TKIs by type of ABL-class fusion. BCR :: ABL1 -like ALL cases with non- CRLF2 genomic alterations represent ... pediatric patients (aged 1–18 years) with ABL-class fusions (all treated without ... 9% of BCR :: ABL1 -like ALL cases result from rearrangements that lead to ...
  9. NFIX-Related Malan Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK605494
    ... A, Hurst JA, Scott RH. Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and ...
  10. EZH2-Related Overgrowth - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK148820
    ... A, Hurst JA, Scott RH. Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and ...
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