Calls for Collaboration
To promote collaboration between researchers, the ERN-ITHACA Research Workgroup has created this virtual plaform of calls for collaborative clinical research on developmental disorders.
These calls typically aim to rapidly build up consistent clinical series for rare monogenic disorders, in order to better delineate the clinical spectrum and natural history of recently identified entities in the field of ITHACA. The calls will be disseminated to the mailing list of ITHACA with regular reminders, and posted below.
ITHACA Team will follow up the success of the call during the year that follows its publication. Any publication issued from this call should acknowledge ITHACA.
Download here the template to submit your call by email to the coordination team
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March 15, 2023
Clinical, radiological, and molecular features of TOE1-related disorders
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March 13, 2023
Microcephalic dwarfisms: growth parameters, brain imaging and cognitive profile
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March 13, 2023
Delineating the clinical and molecular spectrum of NSMCE2 recessive disorder
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March 6, 2023
Delineating the phenotype associated with CA8-related disorders
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March 6, 2023
Delineation of the clinical and genetic features of the ultra-rare ZBTB11-related disorders
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March 3, 2023
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March 3, 2023
De novo mutation in DOP1A, expanding the phenotypic spectrum
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March 2, 2023
Delineating the clinical and molecular spectrum of METTL5 recessive disorder
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March 2, 2023
Clinical and genetic delineation of autosomal dominant and recessive forms of ACTL6B-related disorders
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March 1, 2023
Phenotype of individuals with bi-allelic variants in FRRS1L