Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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Expanding the phenotypic and genotypic spectrum of HIDEA syndrome caused by biallelic P4HTM pathogenic variants
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SPOP-related Neurodevelopmental Disorders
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Geleophysic and acromicric dysplasias: study of the natural history
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Consortium for treating Kosaki syndrome
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Long-term cardiological manifestations in patients with mutations in the SKI gene
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SF1 variants in neurodevelopmental disorders
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KDM4B gene: clinical phenotype and methylation signature
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Defining Myhre syndrome in Adulthood
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Mild phenotype of EEF1A2 variants
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A novel neurodevelopmental disorders associated with heterozygous DLX1 variants