Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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July 6, 2023
Clinical and genetic delineation of recessive RBL2-related neurodevelopmental syndrome
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July 6, 2023
Refining phenotypes in females and males presenting with RNF113A-related X-linked trichothiodystrophy
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July 5, 2023
CHD3 related syndrome investigation and molecular description
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July 4, 2023
Clinical and genetic characterization of SLC9A1 and CHP1-related ataxia
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July 4, 2023
Clinical, genetic and neuroimaging features of biallelic NOTCH3 disorders
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June 28, 2023
Further delineation of RPL26-associated malformations
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June 28, 2023
TMEM53-associated phenotype
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June 20, 2023
MTOR delineation and episignature
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June 20, 2023
SETD1A delineation and episignature
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June 20, 2023
Further expansion of phenotypic spectrum of individuals with bi-allelic variants in CCDC82