Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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February 7, 2024
SNX14-related spinocerebellar ataxia
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February 7, 2024
HCFC1 associated phenotypes and X-inactivation pattern
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February 7, 2024
Biallelic missense variants in CSMD2 are associated with a neurodevelopmental disease and epilepsy
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February 7, 2024
Clinical characterization the spectrum associated with bi-allelic variants in ACACA gene and biochemical evaluation
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February 7, 2024
Clinical and Genetic characterization of the DMXL2-related DEE
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February 7, 2024
Expanding the phenotypic spectrum of RNU4ATAC-related disorders
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February 7, 2024
RAB3GAP1- and RAB3GAP2-related Warburg-Micro syndrome
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January 31, 2024
Characterization of COXFA4 (previously named NDUFA4) – related disorders
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January 31, 2024
Clinical, molecular and functional characterization of biallelic ELOVL1-associated neurodevelopmental disorder
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January 31, 2024
LIFR- and IL6ST-related Stüve-Wiedemann syndrome