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Identifying new potential genetic biomarkers for HELLP syndrome using massive parallel sequencing.
Pregnancy Hypertens. 2020 Oct;22:181-190. doi: 10.1016/j.preghy.2020.09.003. Epub 2020 Sep 21.
Pregnancy Hypertens. 2020.
PMID: 33059327
Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype.
Fonseca DJ, Morel A, Llinás-Caballero K, Bolívar-Salazar D, Laissue P.
Fonseca DJ, et al. Among authors: bolivar salazar d.
Pharmgenomics Pers Med. 2021 Mar 1;14:287-299. doi: 10.2147/PGPM.S289869. eCollection 2021.
Pharmgenomics Pers Med. 2021.
PMID: 33688237
Free PMC article.
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Mutant GNLY is linked to Stevens-Johnson syndrome and toxic epidermal necrolysis.
Fonseca DJ, Caro LA, Sierra-Díaz DC, Serrano-Reyes C, Londoño O, Suárez YC, Mateus HE, Bolívar-Salazar D, Ramírez AF, de-la-Torre A, Laissue P.
Fonseca DJ, et al. Among authors: bolivar salazar d.
Hum Genet. 2019 Dec;138(11-12):1267-1274. doi: 10.1007/s00439-019-02066-w. Epub 2019 Oct 14.
Hum Genet. 2019.
PMID: 31642954
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