Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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July 25, 2023
CARS2-associated neurodevelopmental disorder with epileptic encephalopathy and a complex movement disorder.
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July 21, 2023
Prenatal and postnatal phenotype spectrum for KIF4A variants
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July 21, 2023
BRAT1-associated neurodevelopmental disorder
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July 21, 2023
Clinical and genetic delineation of autosomal recessive UFSP2-related developmental and epileptic-dyskinetic encephalopathy
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July 10, 2023
ACBD6-associated neurodevelopmental syndrome with progressive complex movement disorders
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July 7, 2023
Pathogenic heterozygous variants of GSK3B
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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