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2024
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2025
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Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Not available
S-EPMC5729346
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biostudies-literature
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4CMenB Breadth of Immune Response, Immunogenicity, and Safety: Results From a Phase 3 Randomized, Controlled, Observer Blind Study in Adolescents and Young Adults.
Not available
S-EPMC11584413
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biostudies-literature
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Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Not available
S-EPMC11739880
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biostudies-literature
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Rare copy number variation in posttraumatic stress disorder.
Not available
S-EPMC9763110
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biostudies-literature
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Uncovering the genetic architecture of broad antisocial behavior through a genome-wide association study meta-analysis.
Not available
S-EPMC10902879
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biostudies-literature
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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Not available
S-EPMC7823228
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biostudies-literature
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Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects.
Not available
S-EPMC12338884
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biostudies-literature
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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Not available
S-EPMC4073084
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biostudies-literature
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Understanding the genetic complexity of puberty timing across the allele frequency spectrum.
Not available
S-EPMC11250262
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biostudies-literature
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Genetic variants for head size share genes and pathways with cancer.
Not available
S-EPMC11148644
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biostudies-literature
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