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Registries, Research, Events, • 3/4/25 Rare-X Registry - Official Launch (English) Previous Our Diagnostic Odysseys Next De Novo Variants in snRNA RNU4-2 Cause a Frequent Neurodevelopmental Syndrome — Prof Nicola Whiffin You Might Also Like MSS 2025 Day 1 Nicola Whiffin In conversation with James Coney and Shaun Pye, a webinar for Rare Chromo Day 2025 De Novo Variants in snRNA RNU4-2 Cause a Frequent Neurodevelopmental Syndrome — Prof Nicola Whiffin N.Whiffin - The non-coding exome in rare disease: from diagnosis to therapies IEU Seminar: Andrew Mumford and Daniel Greene