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  • GeneReviews® [Internet] - PubMed
    GeneReviews are indexed in PubMed Note: For a variety of reasons, GeneReviews occasionally removes chapters from the active website Click here for a list of retired chapters Copyright © 1993-2025, University of Washington, Seattle GeneReviews is a registered trademark of the University of Washington, Seattle All rights reserved
  • Gaucher Disease - PubMed
    In: GeneReviews ® [Internet] Seattle (WA): University of Washington, Seattle; 1993 2000 Jul 27 [updated 2023 Dec 7]
  • PubMed
    PubMed® comprises more than 39 million citations for biomedical literature from MEDLINE, life science journals, and online books Citations may include links to full text content from PubMed Central and publisher web sites
  • Noonan Syndrome - PubMed
    Prenatal testing and preimplantation genetic testing are possible if the NS-related pathogenic variant (s) have been identified in an affected family member Copyright © 1993-2025, University of Washington, Seattle GeneReviews is a registered trademark of the University of Washington, Seattle All rights reserved
  • Prader-Willi Syndrome - PubMed
    Once the causative genetic mechanism has been identified in the proband, prenatal testing for PWS is possible Copyright © 1993-2025, University of Washington, Seattle GeneReviews is a registered trademark of the University of Washington, Seattle All rights reserved
  • Lynch Syndrome - PubMed
    Prenatal testing for a pregnancy at increased risk is possible if the pathogenic variant in the family is known Copyright © 1993-2025, University of Washington, Seattle GeneReviews is a registered trademark of the University of Washington, Seattle All rights reserved
  • Angelman Syndrome - PubMed
    Copyright © 1993-2025, University of Washington, Seattle GeneReviews is a registered trademark of the University of Washington, Seattle All rights reserved
  • Wilson Disease - PubMed
    In: GeneReviews ® [Internet] Seattle (WA): University of Washington, Seattle; 1993 1999 Oct 22 [updated 2023 Jan 12]




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