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ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review.
Perrone E, Coelho AVC, Virmond LDA, Espolaor JGA, Filho JBO, Nascimento ATBD, Matta MCD, Meira JGC, Cardoso-Júnior LM, Andrade ACM, Chaves RZT, Acosta AX. Perrone E, et al. Among authors: acosta ax. Am J Med Genet A. 2024 Mar 22:e63602. doi: 10.1002/ajmg.a.63602. Online ahead of print. Am J Med Genet A. 2024. PMID: 38517102
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: acosta ax. 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.
Detection and sequencing of Zika virus in normocephalic newborns with congenital Zika infection.
de Almeida BL, Giovanetti M, Oliveira JV, Carvalho TCX, Figueiredo EM, Pellegrini R, Calcagno JI, Carneiro MW, de Oliveira JMGC, Faiçal AVB, Agra IA, Salles C, Leão EKEA, Lucena R, Acosta AX, Alcantara LCJ, de Siqueira IC. de Almeida BL, et al. Among authors: acosta ax. Int J Infect Dis. 2022 Jan;114:128-131. doi: 10.1016/j.ijid.2021.10.051. Epub 2021 Oct 30. Int J Infect Dis. 2022. PMID: 34728345 Free article.
Hearing Loss in Mucopolysaccharidosis.
Bicalho CG, de Araújo Leão EKE, de Andrade ÁM, Acosta AX. Bicalho CG, et al. Among authors: acosta ax. Int Arch Otorhinolaryngol. 2021 Jul;25(3):e386-e391. doi: 10.1055/s-0040-1712107. Epub 2020 Sep 24. Int Arch Otorhinolaryngol. 2021. PMID: 34377173 Free PMC article.
54 results