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UnknownSystematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathies.
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S-EPMC12424890 | biostudies-literature
UnknownEvaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
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S-EPMC8206389 | biostudies-literature
UnknownEvaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
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S-EPMC7058829 | biostudies-literature
UnknownRelationship Between Severity of Ischemia and Coronary Artery Disease for Different Stress Test Modalities in the ISCHEMIA Trial.
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S-EPMC11658795 | biostudies-literature
UnknownARID1B-related disorder in 87 adults: Natural history and self-sustainability.
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S-EPMC11613905 | biostudies-literature
UnknownEpisignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
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S-EPMC10853222 | biostudies-literature
UnknownHealth Status Outcomes With Percutaneous Coronary Intervention and Coronary Artery Bypass Grafting in ISCHEMIA.
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S-EPMC12492304 | biostudies-literature
UnknownGenome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
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S-EPMC12495801 | biostudies-literature
UnknownDominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
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S-EPMC12165858 | biostudies-literature
Unknown<i>PFMG2025</i>-integrating genomic medicine into the national healthcare system in France.
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S-EPMC11910791 | biostudies-literature
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