Associated Papers
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.
Lamilla J et al.
Diagnostics (basel, Switzerland), 2025
39941308 (PubMed )
Supplement: diagnostics-15-00376-s001.zip › diagnostics-3372801-supplementary.xlsx › Hoja1
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
A novel variant in the QRICH1 gene was identified in a patient with severe developmental delay.
Wang D et al.
Molecular Genetics & Genomic Medicine, 2023
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S et al.
Human Mutation, 2022
Select a paper to view details