Calls for Collaboration
Download here the template to submit your call by email to the coordination team
-
May 20, 2021
Phenotype-genotype study of TAF2
-
May 18, 2021
KLHL11 pathogenic variant in patients with lichen planus, abnormalities of the nails and tumour proneness
-
May 17, 2021
Genotype-phenotype correlation of the CHD8-related developmental disorder
-
May 17, 2021
Phenothype-Genotype relationships in 3q29-microduplication syndrome
-
May 13, 2021
Search for patients with patients with recessive variants in SNX13 gene
-
May 12, 2021
Molecular and phenotypic delineation of the MEF2C-related syndrome
-
May 10, 2021
Search for patients with de novo variants in DCAF15
-
May 10, 2021
Neurodevelopmental disease and brain abnormalities due to YWHAE loss-of-function variants
-
May 7, 2021
Search for patients with severe neonatal presentation due to mutations of the ATL1 gene
-
April 26, 2021
Osteopathia striata with cranial sclerosis: a further insight