Calls for Collaboration
Download here the template to submit your call by email to the coordination team
-
XRCC4-related Microcephalic Dwarfism
-
Expanding the phenotypic and genotypic spectrum of neurodevelopmental disorders caused by mono- and biallelic KDM5A pathogenic variants
-
Delineating the phenotype associated with 5q31 duplications involving PURA
-
Menke-Hennekam syndrome
-
Clinical and molecular description of Townes Brocks
-
Genotype-phenotype characterization of YWHAG-related disorders
-
Delineation of the adult phenotype of Nicolaides-Baraitser, Coffin-Siris, Costello and CFC syndrome
-
HPDL bi-allelic variants
-
The phenotype associated with MYO18A variants
-
Prenatal and fetal description of 3M Syndrome