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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 01, 2024
. (Total: 63726 Documents since 2012)
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Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Sekine Akinari et al. Journal of clinical medicine 2022 11(21)
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Diagnostic utility of whole-genome sequencing for nephronophthisis.
Larrue Romain et al. NPJ genomic medicine 2020 538
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Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.
Obeidova Lena et al. PloS one 2020 15(6) e0235071
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Genetic Testing in Pediatric Kidney Disease.
Arora Veronica et al. Indian journal of pediatrics 2020 Feb
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Genetic Susceptibility to Chronic Kidney Disease - Some More Pieces for the Heritability Puzzle.
Cañadas-Garre Marisa et al. Frontiers in genetics 2019 10453
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Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.
Yao Tony et al. Clinical journal of the American Society of Nephrology : CJASN 2019 Jan
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The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis.
Renkema Kirsten Y et al. Frontiers in pediatrics 2018 6131
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 01, 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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