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Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS).
Zamariolli M, Colovati M, Moysés-Oliveira M, Nunes N, Caires Dos Santos L, Alvarez Perez AB, Bragagnolo S, Melaragno MI. Zamariolli M, et al. Among authors: alvarez perez ab. Mol Genet Genomic Med. 2019 Oct;7(10):e00959. doi: 10.1002/mgg3.959. Epub 2019 Aug 30. Mol Genet Genomic Med. 2019. PMID: 31469246 Free PMC article.
Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype.
Bellucco FT, Rodrigues de Oliveira-Júnior H, Santos Guilherme R, Bragagnolo S, Alvarez Perez AB, Ayres Meloni V, Melaragno MI. Bellucco FT, et al. Among authors: alvarez perez ab. Mol Syndromol. 2019 May;10(3):139-146. doi: 10.1159/000497402. Epub 2019 Mar 6. Mol Syndromol. 2019. PMID: 31191202 Free PMC article.
13 results