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5 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 ...
  2. 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 ... Hove H, Kirchhoff M, Devriendt K, Schwartz M. Mapping genomic deletions down to ... to characterize and clone the breakpoints of a recurrent 7p14.2p15.l3 ...
  3. 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
    ... Humphreys K, Bonnard C, et al. Linkage disequilibrium mapping of CHEK2: common variation and breast cancer risk. ... especially important for systematic reviews) Definition of ratings based on above criteria Good: Recent, relevant review with ...
  4. Childhood Non-Hodgkin Lymphoma Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65738
    ... cell stimulation by EBV may result in multiple clones of proliferating B cells, and both polymorphic and ...
  5. 22q11.2 Deletion Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1523
    ... studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis. Hum Mol Genet. ... T, Sano T, Okada S, Nishisho I. Deletion mapping of 22q11 in CATCH22 syndrome: identification of a ...