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22 results
  1. 22q11.2 Deletion Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1523
    ... substitute for consultation with a genetics professional . —ED. Mode of Inheritance 22q11.2 deletion syndrome (22q11.2DS) is a contiguous gene deletion syndrome inherited in ...
  2. Results - Comparative Effectiveness of Percutaneous Coronary Interventions and Coronary Artery Bypass Grafting for ... 
    https://www.ncbi.nlm.nih.gov/books/NBK43042
    ... was acceptable . Comparative Effectiveness by CABG-Specific Factors (2d) The technique of conventional coronary bypass surgery includes ... and CABG is not greatly affected by the mode of clinical presentation. This statement should be qualified ...
  3. GARS1-Associated Axonal Neuropathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1242
    ... substitute for consultation with a genetics professional . —ED. Mode of Inheritance GARS1 -associated axonal neuropathy is inherited ... HMN5A 601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D Gene. GARS1 spans 40 kb and contains ...
  4. Kabuki Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK62111
    ... substitute for consultation with a genetics professional . —ED. Mode of Inheritance KMT2D -related Kabuki syndrome is inherited ... KDM6A KMT2D 12q13 ​.12 Histone-lysine N-methyltransferase 2D KMT2D database KMT2D KMT2D Data are compiled from ...
  5. SGCE Myoclonus-Dystonia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1414
    ... substitute for consultation with a genetics professional . —ED. Mode of Inheritance SGCE myoclonus-dystonia ( SGCE -M-D) ... the gene mutated in limb-girdle muscular dystrophy 2D. J Biol Chem. 1997; 272 :32534–8. [ PubMed : ...
  6. Usher Syndrome Type II - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1341
    ... substitute for consultation with a genetics professional . —ED. Mode of Inheritance Usher syndrome type II (USH2) is ... the percentage of people with Usher syndrome type 2D is small [ Aller et al 2010 ]. To date, ...
  7. Treacher Collins Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1532
    ... substitute for consultation with a genetics professional . —ED. Mode of Inheritance Mode of inheritance of Treacher Collins ... Pointe H, Vicaut E. The fetal mandible: a 2D and 3D sonographic approach to the diagnosis of ...
  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
    ... in text). KQs 2c , 3c : Genetic testing KQs 2d , 3d : Post-test counseling † KQs 4 , 5 : Intensive ... of breast and/or ovarian cancer. KQ 2b , 2d , 3b , 3d : Genetic counseling for risk management or ...
  9. Responses From Device Manufacturers on Device Specifications and Compatible Accessories (January 2010) - Stereotactic ... 
    https://www.ncbi.nlm.nih.gov/books/NBK55725
    ... 4 4 6 Image Guided Technology (during treatment) 2D or 3D cone-beam CT 2D or 3D cone-beam CT 2D or 3D cone- beam CT 2D or 3D cone- beam CT MVCT prior to ...
  10. Branchiooculofacial Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK55063
    ... substitute for consultation with a genetics professional . —ED. Mode of Inheritance Branchiooculofacial syndrome (BOFS) is inherited in ...
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