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Case Report: Diagnostic assessment, developmental trajectory and treatment approaches in a case of a complex neurodevelopmental syndrome associated with non- synonymous variants in... by V. Napoli, V. Napoli, S. Guerrera, F. Demaria, G. Piccolo, G. Piccolo, A. Cianfa, S. Passarini, S. Passarini, M. G. Logrieco, G. Zanni, G. Valeri, S. Vicari, S. Vicari
Published 2025-06-01Get full text
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Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genes by L. Pollara, E. de Gregorio, V. Buonofiglio, L. Bianca, T. Stellato, M. Brusa, E. De Gasperi, A. Ardissone, G. Zanni, R. Battini, S. Briuglia, V. Sottile, E.M. Valente
Published 2025-08-01Get full text
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