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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
UnknownEpisignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
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S-EPMC10853222 | biostudies-literature
UnknownMultimodal brain age estimates relate to Alzheimer disease biomarkers and cognition in early stages: a cross-sectional observational study.
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S-EPMC9988262 | 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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