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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Public Health Genomics Branch
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: Apr 25, 2024
. (Total: 63675 Documents since 2012)
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Baseline Range of Motion, Strength, Motor Function, and Participation in Youth with Hutchinson-Gilford Progeria Syndrome.
Malloy Julie et al. Physical & occupational therapy in pediatrics 2023 1-20
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The Nuclear Envelope in Ageing and Progeria.
Fragoso-Luna Adrián et al. Sub-cellular biochemistry 2023 10253-75
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Targeting the progeria mutation- Base editors correct a mutation that causes progeria in a mouse model the disease.
H Stower, Nature Medicine, January 25, 2021
NIH Director Backs Moratorium for Heritable Genome Editing
Gen News, November 8, 2019
The genetics of human ageing.
Melzer David, et al. Nature reviews. Genetics 2019 11 0.
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One Little Girl's Story Highlights the Promise of Precision Medicine
F Collins, NIH director's blog, October 23, 2019
Hereditary Syndromes with Signs of Premature Aging.
Lessel Davor et al. Deutsches Arzteblatt international 2019 Jul 116(29-30) 489-496
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Precision Medicine and Progress in the Treatment of Hutchinson-Gilford Progeria Syndrome.
Hisama Fuki Marie et al. JAMA 2018 Apr 319(16) 1663-1664
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Genetics of aging, progeria and lamin disorders.
Ghosh Shrestha et al. Curr. Opin. Genet. Dev. 2014 Jun 41-6
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Can Hutchinson-Gilford progeria syndrome be cured in the future?
Rehman Neeha Abdul et al. Intractable Rare Dis Res 2015 May (2) 111-2
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 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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