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366 results
  1. Phosphorylase Kinase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK55061
    ... Sardharwalla IB, Tuchman M, Baussan C, Willems PJ. Complete genomic structure and mutational spectrum of PHKA2 in patients ...
  2. PHKA2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/phka2
    ... Sardharwalla IB, Tuchman M, Baussan C, Willems PJ. Complete genomic structure and mutational spectrum of PHKA2 in patients ...
  3. 7q11.23 Duplication Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK327268
    ... member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog. Cytogenet ...
  4. Treacher Collins Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1532
    ... A, Scambler PJ, Dixon MJ. Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. Genome ...
  5. Digital Health and Patient Registries: Today, Tomorrow, and the Future - 21st Century Patient Registries - NCBI ... 
    https://www.ncbi.nlm.nih.gov/books/NBK493822
    ... technology.” 82 No discussion about the future is complete without mentioning advancements in genomic medicine. The 100,000 Genomes project in England ...
  6. Precision Environmental Health’s role in preventing disease | NIH MedlinePlus Magazine 
    https://magazine.medlineplus.gov/...alths-role-in-preventing-disease
    ... In vitro refers to cell-based research, and genomics is the study of the complete set of an individual’s DNA. The research program focuses on environmental agents such as industrial chemicals, metals, pesticides and ... and Epigenomic Regulators of Transcription (TaRGET) Program seeks ...
  7. CTNS gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/ctns
    ... Beckstrom-Sternberg SM, Gahl WA, Green ED. The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery ...
  8. SHOX gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/shox
    ... FF, Scott CI Jr, Marttila P, Ross JL. Complete SHOX deficiency causes Langer mesomelic dysplasia. Am J Med Genet. 2002 Jun 15;110(2):158-63. doi: 10.1002/ajmg.10422. Citation on PubMed Genomic Location The SHOX gene is found on the ...
  9. Burn-McKeown Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK373577
    ... tri-snRNP assembly and cell cycle progression. Although complete loss of TXNL4A is hypothesized to be lethal, reduced TXNL4A function results in BMKS. Gene structure. TXNL4A spans approximately 17.8 kb of genomic DNA and comprises three exons. See Table A , ...
  10. TRPM1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/trpm1
    ... Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am J Hum Genet. 2009 Nov;85(5):730-6. doi: 10.1016/j.ajhg.2009.10.012. Epub 2009 Nov 5. Citation on PubMed or Free article on PubMed Central Genomic Location The TRPM1 gene is found on chromosome ...
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