共 50 条
- [41] Multimodal imaging in a family with Cockayne syndrome with a novel pathogenic mutation in the ERCC8 gene, and significant phenotypic variability Documenta Ophthalmologica, 2020, 141 : 89 - 97
- [44] Whole-exome sequencing revealed a novel ERCC8 variant in an Iranian large family with Cockayne syndrome HUMAN GENE, 2024, 39
- [46] RAD26, THE FUNCTIONAL SACCHAROMYCES-CEREVISIAE HOMOLOG OF THE COCKAYNE-SYNDROME-B GENE ERCC6 EMBO JOURNAL, 1994, 13 (22): : 5361 - 5369