نتائج البحث - Mara Doimo

Progressive cognitive impairment and ventricular tachycardia in a boy with biallelic POLG variants and a de novo RYR2 variation حسب Valentina Fumini, Alexandru Ionut Gilea, Elena Tacchetto, Leonardo Salviati, Enrico Baruffini, Mara Doimo

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Model organisms in POLG-related disorders: insights from yeast to multicellular systems حسب Raquel Brañas Casas, Giovanni Risato, Alessandro Zuppardo, Carlo Viscomi, Francesco Argenton, Mara Doimo, Nicola Facchinello, Natascia Tiso

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A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA) حسب Vincenza Gragnaniello, Alfonso Galderisi, Sara Tucci, Mara Doimo, Marianna Caterino, Christian Loro, Chiara Cazzorla, Margherita Ruoppolo, Leonardo Salviati, Alberto B. Burlina

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Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience حسب Vincenza Gragnaniello, Giacomo Gaiga, Chiara Cazzorla, Elena Porcù, Daniela Gueraldi, Andrea Puma, Christian Loro, Mara Doimo, Leonardo Salviati, Alberto B. Burlina

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Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations حسب Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi-Marzoli, Giancarlo Iarossi, Enrico Bertini, Isabella Moroni, Marco Tartaglia, Leonardo Salviati, Rosalba Carrozzo, Daniele Ghezzi

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