Search Results - Renzo Guerrini

Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations by Lorenzo Ferri, Giuseppina Covello, Anna Caciotti, Renzo Guerrini, Michela Alessandra Denti, Amelia Morrone

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Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report by Francesca Peluso, Viviana Palazzo, Giuseppe Indolfi, Francesco Mari, Roberta Pasqualetti, Elena Procopio, Claudia Nesti, Renzo Guerrini, Filippo Santorelli, Sabrina Giglio

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Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction by Beatrice Berti, Giovanna Longo, Francesco Mari, Stefano Doccini, Ilaria Piccolo, Maria Alice Donati, Francesca Moro, Renzo Guerrini, Filippo M. Santorelli, Vittoria Petruzzella

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Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease by Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini, Amelia Morrone

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Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study by Francesca Gorini, Michele Santoro, Anna Pierini, Lorena Mezzasalma, Silvia Baldacci, Elena Bargagli, Alessandra Boncristiano, Maurizia Rossana Brunetto, Paolo Cameli, Francesco Cappelli, Giancarlo Castaman, Barbara Coco, Maria Alice Donati, Renzo Guerrini, Silvia Linari, Vittoria Murro, Iacopo Olivotto, Paola Parronchi, Francesca Pochiero, Oliviero Rossi, Barbara Scappini, Andrea Sodi, Alessandro Maria Vannucchi, Alessio Coi

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