Search results
496 results for your search :
-
Expanding the clinical and molecular spectrum of DPF2-associated Coffin-Siris syndrome type 7
-
DNA methylation profile of Mowat-Wilson syndrome: a study on individuals with atypical presentation or uncertain genotypic correlation
-
WDR45-related neurodegeneration with brain iron accumulation
-
Deep phenotyping and natural history of AFG2A (SPATA5) and AFG2B (SPATA5L1) disorders
-
PTPN11-related SHORT syndrome
-
EPG5-related disorders
-
Neurocognitive profile and correlations in patients with primary microcephaly and ophtalmological impairment due to KIF11, KIF14, PLK4, TUBGCP4, TUBGCP6 or RBBP8
-
EuroNDD 2024
-
Symposium on Genetic Neurodevelopmental Disorders
-
Abstract submission