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497 results for your search :
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INTS11-associated neurodevelopmental disorder
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Clinical, molecular and functional characterization of CLCN3-associated neurodevelopmental disorder
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Delineation of phenotypes and genotypes related to DPYSL genes family
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Phenotypic characterization of a WBP11-related pseudo-VATER syndome
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ERN-ITHACA Webinar #9 “ITHACA Guidelines from start to Finish: An overview of the methodolgy”
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ERN-ITHACA webinar 10 “Incidental and secondary findings from exome/genome sequencing : The views of various European countries and ESHG”
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ERN-ITHACA Webinar 8 “Fetal surgery for omen dysraphisms”
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Program 2023
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Program 2024
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Rett Syndrome: Information Leaflet