Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
40869941 (PubMed )
Supplement: genes-16-00893-s001.zip › File_S1.xlsx › suplement
A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project.
Steiner CE et al.
Genes, 2025
Epigenomic and phenotypic characterization of DEGCAGS syndrome.
Karimi K et al.
European Journal of Human Genetics : Ejhg, 2024
Clinical and ocular abnormalities in DEGCAGS syndrome-Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities.
Ali SM et al.
Molecular Genetics & Genomic Medicine, 2024
Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation.
Biela M et al.
Genes, 2022
Select a paper to view details