Associated Papers
Atypical features in two adult patients with Cockayne syndrome and analysis of genotype-phenotype correlation.
Cheng H et al.
Chinese Medical Journal, 2023
37106549 (PubMed )
Supplement: cm9-136-2110-s001.pdf
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
Calmels N et al.
Journal of Medical Genetics, 2018
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Calmels N et al.
Orphanet Journal of Rare Diseases, 2016
27004399 (PubMed )
Supplement: 13023_2016_408_MOESM1_ESM.xlsx › Feuil1
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