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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: May 16, 2024
. (Total: 63877 Documents since 2012)
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Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.
Magdy Rofaida M et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2021
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Recent Advancements in the Diagnosis and Treatment of Leukodystrophies.
Bradbury Allison M et al. Seminars in pediatric neurology 2021 37100876
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Current Clinical Applications of in vivo Gene Therapy with AAVs.
Mendell Jerry R et al. Molecular therapy : the journal of the American Society of Gene Therapy 2020 Dec
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NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
Singh Kanika et al. BMC medical genetics 2020 Nov 21(1) 216
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Local Coverage Determination (LCD): Biomarkers Overview (L35062)
The U.S. Centers for Medicare & Medicaid Services
Results of the College of American Pathology/American College of Medical Genetics and Genomics external proficiency testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish population.
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 16, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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