Search results
499 results for your search :
-
KBG syndrome evolving phenotype
-
CTNNA3 microdeletion: a description of clinical features
-
A novel X-linked syndromic neurodevelopmental disorders associated with WDR44 pathogenic variants
-
TRA2B-associated neurodevelopmental delay
-
De novo missense variants in EIF3I cause a novel neurodevelopmental disorder with midline brain defects and skeletal abnormalities
-
Search for patients harbouring a de novo heterozygous variant in SP9 gene
-
FOREIGN (FOSL2-related signs)
-
POGZ variants in neurodevelopmental disorders
-
BCL11B related disorder : clinical phenotype, neuropsychological profile, brain MRI characteristics and epigenetic signature
-
Search for patients with biallelic variants in genes implicated in the ufmylation pathway