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7 results
  1. Refsum Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1353
    ... frequent causes of death in Refsum disease. Other laboratory findings Elevated plasma concentration of pipecolic acid. A ... the parents, discussion of these issues is appropriate. Resources GeneReviews staff has selected the following disease-specific ...
  2. Fanconi Anemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1401
    ... hypoplastic radius) Microcephaly Ophthalmic anomalies Genitourinary tract anomalies Laboratory findings Macrocytosis Increased fetal hemoglobin (often precedes anemia) ...
  3. xmlmplus_topics_2024-05-18.xml 
    https://medlineplus.gov/xml/mplus_topics_2024-05-18.xml
    ... li> <li>Disease control workers</li> <li>Research laboratory workers</li> <li>Veterinarians</li> <li>People who ... h3>How is bird flu diagnosed?</h3> <p>Laboratory testing is used to diagnose bird flu. It's ...
  4. Epidermolysis Bullosa with Pyloric Atresia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1157
    ... J, Moshell A. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis ...
  5. Genetics of Breast and Gynecologic Cancers (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65767
    ... of 525 samples submitted to City of Hope laboratories for clinical TP53 testing.[ 348 ] All families with ... not required. This strategy was modified, using similar laboratory tools, to identify finite numbers of specific known ...
  6. Atelosteogenesis Type 2 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1317
    ... hc.vuhc@efanob.asiul Lauréane Mittaz-Crettol , PhD Laboratory of Molecular Pediatrics Lausanne University Hospital Lausanne, Switzerland ... of ACG1B 4. Variant panel may vary by laboratory. 5. Dependent on variant panel and population tested. ...
  7. Multiple Epiphyseal Dysplasia, Recessive - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1306
    ... hc.vuhc@efanob.asiul Lauréane Mittaz-Crettol , PhD Laboratory of Molecular Pediatrics Lausanne University Hospital Lausanne, Switzerland ... of ACG1B 4. Variant panel may vary by laboratory. 5. Dependent on variant panel and population tested. ...