Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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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
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Functional studies of variants in RBM10
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Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant
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Clinical and functional characterization of GRIA-related disorders: translating genetic diagnostics into personalized treatment
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Biallelic variants in BUD23 (WBSCR22) and TRMT112
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SMARCC2-related developmental delay, genotype-phenotype correlations
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Biallelic mutations of ERLIN1
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Expanding the phenotypic and genotypic spectrum of HIDEA syndrome caused by biallelic P4HTM pathogenic variants