Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
A novel variant in NSUN2 causes intellectual disability in a Chinese family.
Yang Q et al.
Bmc Medical Genomics, 2024
Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree.
Sun S et al.
Molecular Genetics & Genomic Medicine, 2020
A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.
Komara M et al.
Journal of Molecular Neuroscience : Mn, 2015
Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar.
Fahiminiya S et al.
Clinical Genetics, 2014
Select a paper to view details