Calls for Collaboration
Download here the template to submit your call by email to the coordination team
-
May 17, 2023
Further expansion of the MAP4K4-related phenotype
-
May 12, 2023
Expanding the phenotype of PBX1 syndrome
-
May 12, 2023
Urinary glucotetrasaccharides elevation in IHPRF1 patients due to homozygous or compound heterozygous deleterious variants in NALCN gene
-
May 12, 2023
Functional testing of UBE2O variants
-
May 12, 2023
Pathogenic variants in PUS7 are responsible for IDDABS but could also be related to Tsukahara syndrome
-
May 12, 2023
Parent-reported functional abilities in patients with FOXP1 syndrome
-
May 2, 2023
CEP76 bi-allelic variants
-
May 2, 2023
Recessive variants in SLC19A1
-
May 2, 2023
Further expansion of the ACTL6A-related phenotype
-
April 27, 2023
Vitamin D and calcium metabolism in adults with Williams-Beuren syndrome