Showing 1 - 6 results of 6 for search 'Simona Orcesi', query time: 0.02s
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Characterization of Mitochondrial Alterations in Aicardi–Goutières Patients Mutated in <i>RNASEH2A</i> and <i>RNASEH2B</i> Genes by Francesca Dragoni, Jessica Garau, Daisy Sproviero, Simona Orcesi, Costanza Varesio, Silvia De Siervi, Stella Gagliardi, Cristina Cereda, Orietta Pansarasa
Published 2022-11-01
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Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome by Francesca Dragoni, Francesca Dragoni, Jessica Garau, Simona Orcesi, Simona Orcesi, Costanza Varesio, Costanza Varesio, Matteo Bordoni, Eveljn Scarian, Eveljn Scarian, Rosalinda Di Gerlando, Rosalinda Di Gerlando, Elisa Fazzi, Elisa Fazzi, Roberta Battini, Roberta Battini, Altea Gjurgjaj, Bartolo Rizzo, Orietta Pansarasa, Stella Gagliardi
Published 2023-03-01
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Expanding the Natural History of <i>SNORD118</i>-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of... by Davide Politano, Guido Catalano, Elena Pezzotti, Costanza Varesio, Fabio Sirchia, Antonella Casella, Elisa Rognone, Anna Pichiecchio, Renato Borgatti, Simona Orcesi
Published 2023-09-01
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Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1 by Sofian Al Wardat, Loredana Frassinelli, Elisa Orecchini, Federica Rey, Silvia Anna Ciafrè, Silvia Galardi, Jessica Garau, Stella Gagliardi, Simona Orcesi, Davide Tonduti, Stephana Carelli, Cristina Cereda, Ernesto Picardi, Alessandro Michienzi
Published 2024-05-01
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Diagnostic Yield and Cost-Effectiveness of “Dynamic” Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy by Costanza Varesio, Simone Gana, Alessia Asaro, Elena Ballante, Raffaella Fiamma Cabini, Elena Tartara, Michela Bagnaschi, Ludovica Pasca, Marialuisa Valente, Simona Orcesi, Cristina Cereda, Pierangelo Veggiotti, Renato Borgatti, Enza Maria Valente, Valentina De Giorgis
Published 2021-05-01
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