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Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):349-356. doi: 10.1002/ajmg.c.31915. Epub 2021 May 7.
Am J Med Genet C Semin Med Genet. 2021.
PMID: 33960103
Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).
Félix TM, de Oliveira BM, Artifon M, Carvalho I, Bernardi FA, Schwartz IVD, Saute JA, Ferraz VEF, Acosta AX, Sorte NB, Alves D; RARAS Network group.
Félix TM, et al.
Orphanet J Rare Dis. 2022 Feb 24;17(1):84. doi: 10.1186/s13023-022-02254-4.
Orphanet J Rare Dis. 2022.
PMID: 35209917
Free PMC article.
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Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.
Rosset C, Vairo F, Bandeira IC, Correia RL, de Goes FV, da Silva RTB, Bueno LSM, de Miranda Gomes MCS, Galvão HCR, Neri JICF, Achatz MI, Netto CBO, Ashton-Prolla P.
Rosset C, et al. Among authors: da silva rtb.
PLoS One. 2017 Oct 2;12(10):e0185713. doi: 10.1371/journal.pone.0185713. eCollection 2017.
PLoS One. 2017.
PMID: 28968464
Free PMC article.
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Dandy-walker malformation and down syndrome association: good developmental outcome and successful endoscopic treatment of hydrocephalus.
Nigri F, Cabral IF, da Silva RT, Pereira HV, Ribeiro CR.
Nigri F, et al.
Case Rep Neurol. 2014 May 14;6(2):156-60. doi: 10.1159/000363179. eCollection 2014 May.
Case Rep Neurol. 2014.
PMID: 24932176
Free PMC article.
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Biomechanical and structural parameters of tendons in rats subjected to swimming exercise.
Bezerra MA, Santos de Lira KD, Coutinho MP, de Mesquita GN, Novaes KA, da Silva RT, de Brito Nascimento AK, Inácio Teixeira MF, Moraes SR.
Bezerra MA, et al.
Int J Sports Med. 2013 Dec;34(12):1070-3. doi: 10.1055/s-0033-1345130. Epub 2013 Jun 5.
Int J Sports Med. 2013.
PMID: 23740340
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Development of a mnemonic screening tool for identifying subjects with Hunter syndrome.
Cohn GM, Morin I, Whiteman DA; Hunter Outcome Survey Investigators.
Cohn GM, et al.
Eur J Pediatr. 2013 Jul;172(7):965-70. doi: 10.1007/s00431-013-1967-x. Epub 2013 Mar 7.
Eur J Pediatr. 2013.
PMID: 23468122
Free PMC article.
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