Calls for Collaboration
Download here the template to submit your call by email to the coordination team
-
SPOP-related Neurodevelopmental Disorders
-
Geleophysic and acromicric dysplasias: study of the natural history
-
Consortium for treating Kosaki syndrome
-
Long-term cardiological manifestations in patients with mutations in the SKI gene
-
SF1 variants in neurodevelopmental disorders
-
KDM4B gene: clinical phenotype and methylation signature
-
Defining Myhre syndrome in Adulthood
-
Mild phenotype of EEF1A2 variants
-
A novel neurodevelopmental disorders associated with heterozygous DLX1 variants
-
Further delineation of the phenotypic spectrum associated to BMP4 pathogenic variants