Showing 1 - 11 results of 11 for search 'Enrico S. Bertini', query time: 0.03s
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Imbalance of Systemic Redox Biomarkers in Children with Epilepsy: Role of Ferroptosis by Sara Petrillo, Nicola Pietrafusa, Marina Trivisano, Costanza Calabrese, Francesca Saura, Maria Giovanna Gallo, Enrico Silvio Bertini, Federico Vigevano, Nicola Specchio, Fiorella Piemonte
Published 2021-08-01
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Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment by Mario Cesare Nurchis, Gerardo Altamura, Maria Teresa Riccardi, Francesca Clementina Radio, Giovanni Chillemi, Enrico Silvio Bertini, Jacopo Garlasco, Marco Tartaglia, Bruno Dallapiccola, Gianfranco Damiani
Published 2023-05-01
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Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study by Claudia Brogna, Marika Pane, Giorgia Coratti, Adele D’Amico, Elena Pegoraro, Luca Bello, Valeria Ada Maria Sansone, Emilio Albamonte, Sonia Messina, Antonella Pini, Maria Grazia D’Angelo, Claudio Bruno, Tiziana Mongini, Federica Silvia Ricci, Angela Berardinelli, Roberta Battini, Riccardo Masson, Enrico Silvio Bertini, Luisa Politano, Eugenio Mercuri, Italian DMD Group
Published 2023-04-01
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Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients by Anwar Baban, Marianna Cicenia, Monia Magliozzi, Giovanni Parlapiano, Giovanni Parlapiano, Marco Cirillo, Giulia Pascolini, Giulia Pascolini, Fabiana Fattori, Maria Gnazzo, Pasqualina Bruno, Lorenzo De Luca, Luca Di Chiara, Paola Francalanci, Bjarne Udd, Bjarne Udd, Bjarne Udd, Aurelio Secinaro, Antonio Amodeo, Enrico Silvio Bertini, Marco Savarese, Marco Savarese, Fabrizio Drago, Antonio Novelli
Published 2023-07-01
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SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples by Emanuela Abiusi, Paola Infante, Cinzia Cagnoli, Ludovica Lospinoso Severini, Marika Pane, Giorgia Coratti, Maria Carmela Pera, Adele D'Amico, Federica Diano, Agnese Novelli, Serena Spartano, Stefania Fiori, Giovanni Baranello, Isabella Moroni, Marina Mora, Maria Barbara Pasanisi, Krizia Pocino, Loredana Le Pera, Davide D'Amico, Lorena Travaglini, Francesco Ria, Claudio Bruno, Denise Locatelli, Enrico Silvio Bertini, Lucia Ovidia Morandi, Eugenio Mercuri, Lucia Di Marcotullio, Francesco Danilo Tiziano
Published 2021-09-01
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P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies* by Marina DiStefano, Ryan Webb, Hannah McCurry, Shannon McNulty Gray, Swati Tomar, Prasad Kopparapu, Eleanor Broeren, Kezang Tshering, Alan Beggs, Enrico Silvio Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie Genetti, Hernan Gonorazky, Svetlana Gorokhova, Amanda Lindy, Livija Medne, Sander Pajusalu, Katarina Pelin, John Rendu, Matteo Vatta, Tom Winder, Hui Yang, Grace Yoon, Ozge Ceyhan-Birsoy, Carsten Bönnemann
Published 2023-01-01
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