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The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.
Hum Genomics. 2023 Nov 16;17(1):102. doi: 10.1186/s40246-023-00549-6.
Hum Genomics. 2023.
PMID: 37968704
Free PMC article.
Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.
Perrone E, Perez ABA, D'Almeida V, de Mello CB, Jacobina MAA, Loureiro RM, Burlin S, Migliavacca M, do Amaral Virmond L, Graziadio C, Pedroso JL, Mendes EL, Gomy I, de Macena Sobreira NL.
Perrone E, et al. Among authors: do amaral virmond l.
Am J Med Genet A. 2021 Apr;185(4):1047-1058. doi: 10.1002/ajmg.a.62059. Epub 2020 Dec 31.
Am J Med Genet A. 2021.
PMID: 33381921
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