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UnknownSpecialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
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S-EPMC9640711 | biostudies-literature
UnknownBiallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
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S-EPMC10506156 | biostudies-literature
UnknownExpression quantitative trait locus fine mapping of the 17q12-21 asthma locus in African American children: a genetic association and gene expression study.
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S-EPMC7335429 | biostudies-literature
UnknownEffect of Oral Methylprednisolone on Decline in Kidney Function or Kidney Failure in Patients With IgA Nephropathy: The TESTING Randomized Clinical Trial.
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S-EPMC9115617 | biostudies-literature
UnknownStandard care versus protocol based therapy for new onset Pseudomonas aeruginosa in cystic fibrosis.
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S-EPMC4059359 | biostudies-literature
UnknownGWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Not available
S-EPMC9385867 | biostudies-literature
UnknownGenetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
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S-EPMC4735748 | biostudies-literature
UnknownBaseline Characteristics and Outcomes After Anti-Vascular Endothelial Growth Factor Therapy for Macular Edema in Participants With Hemiretinal Vein Occlusion Compared With Participants With Central Retinal Vein Occlusion: Study of Comparative Treatments for Retinal Vein Occlusion 2 (SCORE2) Report 18.
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S-EPMC8949717 | biostudies-literature
UnknownIntraocular Pressure-Related Events After Anti-Vascular Endothelial Growth Factor Therapy for Macular Edema Due to Central Retinal Vein Occlusion or Hemiretinal Vein Occlusion: SCORE2 Report 16 on a Secondary Analysis of a Randomized Clinical Trial.
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S-EPMC8554687 | biostudies-literature
UnknownGWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.
Not available
S-EPMC10208981 | biostudies-literature
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