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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: May 18, 2024
. (Total: 63881 Documents since 2012)
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Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results.
Forsythe Elizabeth et al. Orphanet journal of rare diseases 2023 18(1) 12
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Testing for rare genetic causes of obesity: findings and experiences from a pediatric weight management program.
Roberts Karyn J et al. International journal of obesity (2005) 2022
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Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Best Sunayna et al. Journal of medical genetics 2021
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An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
Shamseldin Hanan E et al. Human genetics 2020 May
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Caring for a child with Bardet-Biedl syndrome: A qualitative study of the parental experiences of daily coping and support.
Zelihic Deniz et al. European journal of medical genetics 2020 Jan 103856
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Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Jiman Omamah A et al. European journal of human genetics : EJHG 2019 Dec
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Toward personalized medicine in Bardet-Biedl syndrome.
Kenny Joanna et al. Personalized medicine 2017 14(5) 447-456
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 18, 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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