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Issue Date | Title | Author(s) |
---|---|---|
2018 | Recessive congenital fiber type disproportion caused by TPM3 mutation | MORENO, C.; ESTEPHAN, E.; ABATH NETO, O.; CAMELO, C.; SILVA, A.; REED, U.; BONNEMANN, C.; ZANOTELI, E. |
2018 | The p.N88K mutation in the RAPSN gene in Brazilian patients with congenital myasthenic syndrome | ESTEPHAN, E.; ZAMBON, A.; MARCHIORI, P.; SILVA, A.; MORENO, C.; REED, U.; TOPF, A.; LOCHMUELLER, H.; ZANOTELIL, E. |
2018 | Case 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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