Calls for Collaboration
Download here the template to submit your call by email to the coordination team
-
October 2, 2024
Biallelic mutations in ITSN1
-
September 30, 2024
Wide Phenotypic and Allelic Continuum of STUB1-Related Disorders: Characterization of the Severe End of the Spectrum Exhibiting a Recessive Neurodevelopmental Syndrome
-
September 25, 2024
Genotype-first analysis of SCN1A and SCN2A
-
September 25, 2024
Genotype-first analysis of SCN3B
-
September 25, 2024
Genotypic, Phenotypic, and Biochemical Characterization of GOT2 Deficiency in Neurodevelopmental Disorder with Epilepsy
-
September 25, 2024
RARB Natural History Study
-
September 18, 2024
Clinical characterization of patients with a four-fold gain of the region 16p11.2
-
September 18, 2024
ELFN1 Deficiency: the mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy
-
September 18, 2024
DYNC1H1–related disorders
-
September 18, 2024
Adult phenotype of Wiedemann-Steiner syndrome (>15y)