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9 results
  1. GARS1-Associated Axonal Neuropathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1242
    ... refined genetic position and construction of a bacterial clone-based physical map. Genome Res. 1999; 9 :568–74. [ PMC free ...
  2. Genetics of Breast and Gynecologic Cancers (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65767
    ... research populations, some of which were utilized to map and clone BRCA1 and BRCA2 . One such example is K2082, ...
  3. Hand-Foot-Genital Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1423
    ... occur; fertility is normal. Diagnosis/testing. Diagnosis is based on physical examination including radiographs of the hands and feet ...
  4. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... be difficult to tell the three conditions apart based on their physical features. However, the conditions can be distinguished by ... walking style (gait) is often unbalanced and wide-based. Speech is also ... unusual physical features, such as widely spaced eyes (hypertelorism), a ...
  5. TP63-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK43797
    ... al [1998] . The numbering of pathogenic variants is based on this clone (except for those that are specific for the ΔN 5′ end, which are based on NM_001114982.1 ). Yang et al [1998] ...
  6. 22q11.2 Deletion Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1523
    ... An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge ... with genomic and PCR-based targets. Int J Mol Med. 2004; 13 :273– ...
  7. Langerhans Cell Histiocytosis Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65799
    ... disease, should include the following:[ 71 ] History and physical exam: A complete history and physical exam with special attention to the skin, lymph ... strategy for follow-up of pulmonary LCH includes physical examination, chest radiographs, lung function tests, and high- ...
  8. Detailed Methods - Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A ... 
    https://www.ncbi.nlm.nih.gov/books/NBK545871
    ... Chlebowski RT, et al. Quality of life in MAP.3 (Mammary Prevention 3): a randomized, placebo-controlled ... al. Evolution of the colored eco-genetic relationship map (CEGRM) for assessing social functioning in women in ...
  9. Childhood Non-Hodgkin Lymphoma Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65738
    ... in cases without MAP2K1 mutations, suggesting that the MAP kinase pathway is important in the pathogenesis of ... lymphoma--a clinico-pathological study of a population-based series of patients treated within the Non-Hodgkin' ...