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Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).
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.
Epilepsy and EEG Abnormalities in Congenital Zika Syndrome.
van der Linden H Jr, Pessoa A, van der Linden A, Florêncio RN, Carvalho MDCG, van der Linden V.
van der Linden H Jr, et al. Among authors: florencio rn.
J Clin Neurophysiol. 2022 May 1;39(4):248-252. doi: 10.1097/WNP.0000000000000878. Epub 2022 Jan 6.
J Clin Neurophysiol. 2022.
PMID: 34999638
Review.
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Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy.
Mendonça RH, Matsui C Jr, Polido GJ, Silva AMS, Kulikowski L, Torchio Dias A, Zanardo EA, Solla DJF, Gurgel-Giannetti J, de Moura ACML, Sampaio GPC, Oliveira ASB, de Souza PVS, Pinto WBVR, Gonçalves EA, Farias IB, Nardes F, Araújo APQC, Marques W Jr, Tomaselli PJ, Ribeiro MDO, Kitajima JP, Paoli Monteiro F, Saute JAM, Becker MM, Saraiva-Pereira ML, Brusius-Facchin AC, van der Linden V, Florêncio RN, Barbosa AVS, Machado-Costa MC, Pessoa ALS, Souza LS, Franca MC Jr, Kok F, Reed UC, Zanoteli E.
Mendonça RH, et al. Among authors: florencio rn.
Neurol Genet. 2020 Sep 1;6(5):e505. doi: 10.1212/NXG.0000000000000505. eCollection 2020 Oct.
Neurol Genet. 2020.
PMID: 33062891
Free PMC article.
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Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.
Afzal AR, Florêncio RN, Taylor R, Patton MA, Saggar-Malik A, Jeffery S.
Afzal AR, et al. Among authors: florencio rn.
Genet Test. 2000;4(4):365-70. doi: 10.1089/109065700750065108.
Genet Test. 2000.
PMID: 11216660
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