Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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Expanding the phenotype related to de novo missense variants in HNRNPH2
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Correlation between intellectual disability and cutaneous skin mosaicism
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Clinical and molecular characterization of a novel MYCN related syndrome – A mirror phenotype and molecular of the Feingold syndrome
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B4GALT5 as potential candidate gene for a novel sphingolipid disorder
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RAB10: a candidate gene for a severe neurodevelopmental syndrome
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CHAMP1 clinical spectrum (MRD40 – OMIM 616579)
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Phenotypic delineation of patients with bi-allelic CDK10 mutations (Al Kaissi syndrome)