Cockayne Syndrome: Most Up-to-Date Encyclopedia, News & Reviews
Por um escritor misterioso
Last updated 14 janeiro 2025
Two heterozygous mutations in the ERCC6 gene associated with Cockayne syndrome in a Chinese patient - Qin Zhang, Minjuan Liu, Yinghua Liu, Hui Tang, Ting Wang, Hong Li, Jingjing Xiang, 2020
Cockayne syndrome
JPM, Free Full-Text
ASH1L-MRG15 methyltransferase deposits H3K4me3 and FACT for damage verification in nucleotide excision repair
Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis, Orphanet Journal of Rare Diseases
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care - ScienceDirect
Trichothiodystrophy - an overview
Sotos Syndrome: Most Up-to-Date Encyclopedia, News & Reviews
PDF) Assessing the Formation of Purine Lesions in Mitochondrial DNA of Cockayne Syndrome Cells
The origin of human mutation in light of genomic data
Rubinstein Taybi Syndrome: Most Up-to-Date Encyclopedia, News & Reviews
Life, Free Full-Text
Patients with Cockayne syndrome. The only constant dysmorphic feature
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome
Cells, Free Full-Text
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