Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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Further delineation of the phenotypic spectrum associated to BMP4 pathogenic variants
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XPO7-associated neurodevelopmental disorder
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CTNNA3 microdeletion: a description of clinical features
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Development of a DNA methylation episignature for variants in KDM3
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KBG syndrome evolving phenotype
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CTNNA3 microdeletion: a description of clinical features
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A novel X-linked syndromic neurodevelopmental disorders associated with WDR44 pathogenic variants
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TRA2B-associated neurodevelopmental delay
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De novo missense variants in EIF3I cause a novel neurodevelopmental disorder with midline brain defects and skeletal abnormalities
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Search for patients harbouring a de novo heterozygous variant in SP9 gene