Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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The phenotype associated with MYO18A variants
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Prenatal and fetal description of 3M Syndrome
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Green says go, amber slow, red spells woe
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ABCA2 variants – defining genotype-phenotype correlation
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Genotype-phenotype characterization of DLG4-related synaptopathy
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Expanded phenotype of RHOA-related mosaic neuroectodermal disorder
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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