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Immunological evaluation of young unvaccinated patients with Turner syndrome after COVID-19.
Int J Infect Dis. 2023 Apr;129:207-215. doi: 10.1016/j.ijid.2023.01.042. Epub 2023 Feb 8.
Int J Infect Dis. 2023.
PMID: 36758851
Free PMC article.
Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs.
Romanelli Tavares VL, Monfardini F, Lourenço NCV, da Rocha KM, Weinmann K, Pavanello R, Zatz M.
Romanelli Tavares VL, et al. Among authors: da rocha km.
Int J Neonatal Screen. 2021 Aug 11;7(3):53. doi: 10.3390/ijns7030053.
Int J Neonatal Screen. 2021.
PMID: 34449526
Free PMC article.
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FGFR2 mutation confers a less drastic gain of function in mesenchymal stem cells than in fibroblasts.
Yeh E, Atique R, Ishiy FA, Fanganiello RD, Alonso N, Matushita H, da Rocha KM, Passos-Bueno MR.
Yeh E, et al. Among authors: da rocha km.
Stem Cell Rev Rep. 2012 Sep;8(3):685-95. doi: 10.1007/s12015-011-9327-6.
Stem Cell Rev Rep. 2012.
PMID: 22048896
Free PMC article.
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Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
Moreira DP, Griesi-Oliveira K, Bossolani-Martins AL, Lourenço NC, Takahashi VN, da Rocha KM, Moreira ES, Vadasz E, Meira JG, Bertola D, O'Halloran E, Magalhães TR, Fett-Conte AC, Passos-Bueno MR.
Moreira DP, et al. Among authors: da rocha km.
PLoS One. 2014 Sep 25;9(9):e107705. doi: 10.1371/journal.pone.0107705. eCollection 2014.
PLoS One. 2014.
PMID: 25255310
Free PMC article.
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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenço C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW.
Acuna-Hidalgo R, et al. Among authors: da rocha km.
PLoS Genet. 2017 Mar 27;13(3):e1006683. doi: 10.1371/journal.pgen.1006683. eCollection 2017 Mar.
PLoS Genet. 2017.
PMID: 28346496
Free PMC article.
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