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1,428 results

  1. Cancer Genetics Overview (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65761
    ... Research Council. Table 12. Search Engines Specializing in Genetics and Genomics View in own window Resource Description GWAS Catalog ...
  2. Childhood Soft Tissue Sarcoma Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65923
    ... patients younger than 20 years (see Table 1 ). Genetic and genomic alterations The first sizeable series of children with ... on Undifferentiated Small Round Cell Sarcomas With BCOR Genetic Alterations and Genomics of Ewing Sarcoma in Ewing Sarcoma and Undifferentiated ...
  3. Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1509
    ... review of medical records, including results of genomic /genetic testing. Genomic/Genetic Testing Molecular genetic testing approaches can include a ... click here . More detailed information for clinicians ordering genetic tests can be found ... testing (which does not require the clinician to ...
  4. Hypophosphatasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1150
    ... rihad.nyrhtak Mark E Nunes , MD Director of Genetics, Genomics, and Metabolism Cure 4 the Kids Foundation Las ... Mark E Nunes, MD, is the Director of Genetics, Genomics, and Metabolism at Cure 4 the Kids Foundation ...
  5. Neuronal Ceroid Lipofuscinoses Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1428
    ... the past, it is now primarily used following genetic/ genomic testing to aid in clarifying the pathogenicity of ... clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23:2029-37. [ PubMed : ...
  6. Cancer Genetics Risk Assessment and Counseling (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65817
    ... data often in combination with emerging biologic and genetic/genomic evidence to establish predictions.[ 48 ] Multiple methodologies are ...
  7. C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK268647
    ... treatments. The expertise of the group is in genetics, genomics and functional genomics of Alzheimer disease, frontotemporal lobar ... Committee on Genetics, and American College of Medical Genetics and Genomics Social, Ethical, Legal Issues Committee. Ethical and policy ...
  8. 3q29 Recurrent Deletion - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK385289
    ... genes of interest have been identified (see Molecular Genetics ). Genomic testing methods that determine the copy number of ... genetic testing are possible. Prenatal testing or preimplantation genetic testing using genomic testing that will detect the 3q29 recurrent deletion ...
  9. Maternal Effect Gene-Related Multilocus Imprinting Disturbances - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK614473
    ... including results of molecular genetic testing , is recommended. Genomic/Genetic Testing Molecular genetic testing in a proband with ... consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. ...
  10. Detailed Methods - Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK179207
    ... Blazer KR, MacDonald DJ, Culver JO, Offit K. Genetics, genomics, and cancer risk assessment. CA. Cancer J. Clin. ...
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