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
PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly.
Khan A et al.
Clinical Genetics, 2020
Select a paper to view details