Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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June 1, 2022
AUTS2 syndrome: defining genotype-phenotype correlation
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May 23, 2022
Clinical and Molecular Delineation of the New NFIC-related disorder
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May 3, 2022
CELF4 variants in dominant neurodevelopmental disorders
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March 11, 2022
Clinical and molecular characterization of a novel AXTN1-related neurodevelopmental syndrome
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February 16, 2022
Expanding the phenotypic spectrum of the ZNF292
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February 7, 2022
SCA2 in children
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February 6, 2022
Functional studies of variants in RBM10
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February 5, 2022
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant
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November 1, 2021
Clinical and functional characterization of GRIA-related disorders: translating genetic diagnostics into personalized treatment
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October 25, 2021
Biallelic variants in BUD23 (WBSCR22) and TRMT112