<style face="normal" font="default" size="100%">Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy</style>

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<style face="normal" font="default" size="100%">Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy</style>

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<style face="normal" font="default" size="100%">CIBERER: Spanish National Network for Research on Rare Diseases: a highly productive collaborative initiative.</style>

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<style face="normal" font="default" size="100%">Novel genes and sex differences in COVID-19 severity.</style>

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<style face="normal" font="default" size="100%">Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review</style>

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<style face="normal" font="default" size="100%">A New Overgrowth Syndrome is Due to Mutations in RNF125.</style>