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Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations.
Zanardo ÉA, Monteiro FP, Chehimi SN, Oliveira YG, Dias AT, Costa LA, Ramos LL, Novo-Filho GM, Montenegro MM, Nascimento AM, Kitajima JP, Kok F, Kulikowski LD. Zanardo ÉA, et al. Among authors: kulikowski ld. J Mol Diagn. 2020 Aug;22(8):1041-1049. doi: 10.1016/j.jmoldx.2020.05.007. Epub 2020 Jun 1. J Mol Diagn. 2020. PMID: 32497716 Free article.
Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil.
de Carvalho AFL, Alves ES, Pitanga PML, Ribeiro EM, Doriqui MJR, Toralles MBP, Topázio BA, Dos Santos JF, de Lima RLLF, Kulikowski LD, Acosta AX. de Carvalho AFL, et al. Among authors: kulikowski ld. J Pediatr Genet. 2022 Nov 14;13(2):90-98. doi: 10.1055/s-0042-1757888. eCollection 2024 Jun. J Pediatr Genet. 2022. PMID: 38721574 Free PMC article.
100 results