publicaciones seleccionadas artículo académico Whole-exome sequencing in patients affected by Stevens-Johnson syndrome and toxic epidermal necrolysis reveals new variants potentially contributing to the phenotype 2021-3-1 A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies 2020-12-17 Identifying new potential genetic biomarkers for HELLP syndrome using massive parallel sequencing 2020-10-1 DNA demethylation agent 5azadC downregulates HPV16 E6 expression in cervical cancer cell lines independently of TBX2 expression 2020-1-1 Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology 2019-1-1 5azadC treatment upregulates miR-375 level and represses HPV16 E6 expression 2017-1-1 Long-term storage and safe retrieval of human papillomavirus DNA using FTA elute cards 2016-3-1 Diagnostic moléculaire des papillomavirus humains (HPV) : quel(s) test(s) en pratique clinique ? 2016-11-1 Methylation of human papillomavirus type 16 CpG sites at E2-binding site 1 (E2BS1), E2BS2, and the Sp1-binding site in cervical cancer samples as determined by high-resolution melting analysis-PCR 2013-10-1 carta A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency 2018-8-1
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