Associated Papers
Predominant neurological phenotype in a Hungarian family with two novel mutations in the XPA gene-case series.
Zádori D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
31478152 (PubMed )
Supplement: 10072_2019_4044_MOESM1_ESM.pdf
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx
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