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المؤلفون: Francesca Cumbo, Michele Tosi, Michela Catteruccia, Daria Diodato, Francesco Nicita, Teresa Grimaldi Capitello, Paolo Alfieri, Stefano Vicari, Enrico Bertini, Adele D'Amico
المصدر: Neuromuscular Disorders. 32:736-742
مصطلحات موضوعية: Dystrophin, Muscular Dystrophy, Duchenne, Cognition, Cross-Sectional Studies, Adolescent, Neurology, Pediatrics, Perinatology and Child Health, Humans, Neurology (clinical), Neuropsychological Tests, Child, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39f5ec05e24f16ba265290189ffb6737Test
https://doi.org/10.1016/j.nmd.2022.07.402Test -
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المؤلفون: Fabiana Fattori, Claudio Cherchi, Maria Beatrice Chiarini Testa, Enrico Bertini, Michele Tosi, Adele D'Amico, Adelina Carlesi, Giovanna Paglietti, Antonella Longo, Luca Bosco, Irene Mizzoni
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: XLMTM, medicine.medical_specialty, Respiratory distress, business.industry, Myotubularin, Research, Incidence (epidemiology), Hepatobiliary disease, General Medicine, medicine.disease, Comorbidity, Congenital myopathy, Human genetics, Hypotonia, Myotubular myopathy, medicine, Medicine, Pharmacology (medical), Hepatobiliary, medicine.symptom, business, Intensive care medicine, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d83a1cb221d40ebd770b39afb91a1f01Test
https://doaj.org/article/6c3ecfacd54d438aaffe437c59802931Test -
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المؤلفون: Adele D’Amico, Antonella Longo, Fabiana Fattori, Michele Tosi, Luca Bosco, Maria Beatrice Chiarini Testa, Maria Giovanna Paglietti, Claudio Cherchi, Adelina Carlesi, Irene Mizzoni, Enrico Bertini
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-1 (2022)مصطلحات موضوعية: Male, Digestive System Diseases, Infant, Newborn, Correction, Comorbidity, General Medicine, Medicine, Humans, Pharmacology (medical), Prospective Studies, Muscle, Skeletal, Genetics (clinical), Myopathies, Structural, Congenital, Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::434b6d40b39ae0573276c90efa650fd7Test
https://doi.org/10.1186/s13023-021-02171-yTest -
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المؤلفون: Francesco Nicita, Lorena Travaglini, Francesco Bombelli, Michele Tosi, Stefano Pro, Enrico Bertini, Adele D'Amico
المصدر: Neurology Genetics. 8:e661
مصطلحات موضوعية: Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5cefb065aac0da2cddf938647b6fa5dbTest
https://doi.org/10.1212/nxg.0000000000000661Test