Calls for Collaboration
Download here the template to submit your call by email to the coordination team
-
October 25, 2021
Biallelic variants in BUD23 (WBSCR22) and TRMT112
-
October 18, 2021
SMARCC2-related developmental delay, genotype-phenotype correlations
-
October 7, 2021
Biallelic mutations of ERLIN1
-
October 4, 2021
Expanding the phenotypic and genotypic spectrum of HIDEA syndrome caused by biallelic P4HTM pathogenic variants
-
October 1, 2021
SPOP-related Neurodevelopmental Disorders
-
September 27, 2021
Geleophysic and acromicric dysplasias: study of the natural history
-
September 23, 2021
Consortium for treating Kosaki syndrome
-
September 21, 2021
Long-term cardiological manifestations in patients with mutations in the SKI gene
-
September 20, 2021
SF1 variants in neurodevelopmental disorders
-
September 6, 2021
KDM4B gene: clinical phenotype and methylation signature