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Issue DateTitleAuthor(s)
2018Recessive congenital fiber type disproportion caused by TPM3 mutationMORENO, C.; ESTEPHAN, E.; ABATH NETO, O.; CAMELO, C.; SILVA, A.; REED, U.; BONNEMANN, C.; ZANOTELI, E.
2018The p.N88K mutation in the RAPSN gene in Brazilian patients with congenital myasthenic syndromeESTEPHAN, E.; ZAMBON, A.; MARCHIORI, P.; SILVA, A.; MORENO, C.; REED, U.; TOPF, A.; LOCHMUELLER, H.; ZANOTELIL, E.
2018Case report: CMT2D with intermediate pattern. an expanding phenotype?ESTEPHAN, E.; SAMPAIO, P.; SOUZA, F.; ROCHA, M.; ZANOTELI, E.; MARQUES JR., W.
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