Associated Papers
Functional and pathogenic insights into CNNM4 variants in Jalili syndrome.
Rattanapornsompong K et al.
Scientific Reports, 2024
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
Novel CNNM4 variant and clinical features of Jalili syndrome.
Rattanapornsompong K et al.
Clinical Genetics, 2023
A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations.
Parveen A et al.
Molecular Genetics & Genomic Medicine, 2019
Features, genetics and their correlation in Jalili syndrome: a systematic review.
Daneshmandpour Y et al.
Journal of Medical Genetics, 2019
A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.
Rahimi-Aliabadi S et al.
Eye (london, England), 2016
Select a paper to view details