Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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RASopathies associated with prenatal hypertrophic cardiomyopathy
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Expanding the phenotypic and genotypic spectrum of NAA15-related disorder
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Expanding the phenotype of SLC12A2 syndrome
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PTEN In Children
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AUTS2 syndrome: defining genotype-phenotype correlation
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Clinical and Molecular Delineation of the New NFIC-related disorder
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CELF4 variants in dominant neurodevelopmental disorders
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Clinical and molecular characterization of a novel AXTN1-related neurodevelopmental syndrome
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Expanding the phenotypic spectrum of the ZNF292
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SCA2 in children