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495 results for your search :
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Clinical and Genetic characterization of the DMXL2-related DEE
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Expanding the phenotypic spectrum of RNU4ATAC-related disorders
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RAB3GAP1- and RAB3GAP2-related Warburg-Micro syndrome
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16th European Paediatric Neurology Society Congress
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European Conference on Rare Diseases
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Characterization of COXFA4 (previously named NDUFA4) – related disorders
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Clinical, molecular and functional characterization of biallelic ELOVL1-associated neurodevelopmental disorder
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LIFR- and IL6ST-related Stüve-Wiedemann syndrome
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PUF60-related Verheij syndrome
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ERN-ITHACA Webinar #14: Innovation in Newborn Screening across Europe – Part 2