Associated Papers
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.
Wayhelova M et al.
Orphanet Journal of Rare Diseases, 2024
38321498 (PubMed )
Supplement: 13023_2024_3056_MOESM5_ESM.xlsx › All_variants
Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development.
Wayhelova M et al.
Journal of Human Genetics, 2022
Select a paper to view details