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1دورية أكاديمية
المؤلفون: Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, Emilia Ricci, Alessandro Rocca, Caterina Gambi, Luca Soliani, Veronica Di Pisa, Silvia Martini, Giacomo Sperti, Valeria Cagnazzo, Patrizia Accorsi, Emanuele Bartolini, Domenica Battaglia, Pia Bernardo, Maria Paola Canevini, Anna Rita Ferrari, Lucio Giordano, Chiara Locatelli, Margherita Mancardi, Alessandro Orsini, Tommaso Pippucci, Dario Pruna, Anna Rosati, Agnese Suppiej, Sara Tagliani, Alessandro Vaisfeld, Aglaia Vignoli, Kosuke Izumi, Ian Krantz, Duccio Maria Cordelli
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المؤلفون: Gianluca Dini, Alberto Verrotti, Paolo Gorello, Luca Soliani, Duccio Maria Cordelli, Vincenzo Antona, Amedea Mencarelli, Davide Colavito, Paolo Prontera
المصدر: Frontiers in Pediatrics, Vol 11 (2023)
مصطلحات موضوعية: NFIA, neurodevelopmental disorders, intellectual disability, genetics, pediatrics, Pediatrics, RJ1-570
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Susanna Rizzi, Carlotta Spagnoli, Melissa Bellini, Carlo Alberto Cesaroni, Elisabetta Spezia, Patrizia Bergonzini, Elisa Caramaschi, Luca Soliani, Emanuela Claudia Turco, Benedetta Piccolo, Laura Demuth, Duccio Maria Cordelli, Giacomo Biasucci, Daniele Frattini, Carlo Fusco
المصدر: Genes, Vol 14, Iss 9, p 1828 (2023)
مصطلحات موضوعية: AADC, Aromatic L-amino-acid decarboxylase deficiency, neurodevelopmental disorder, metabolic disease, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Luca Bergonzini, Jacopo Pruccoli, Ilaria Pettenuzzo, Rosa Pugliano, Luca Soliani, Anna Fetta, Duccio Maria Cordelli
المصدر: Genes, Vol 14, Iss 2, p 299 (2023)
مصطلحات موضوعية: Status Epilepticus, Angelman Syndrome, Ring 20 Syndrome, chromosomal disorders, epilepsy, anti-seizure medications, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Anna Fetta, Veronica Di Pisa, Martina Ruscelli, Luca Soliani, Giacomo Sperti, Sara Ubertiello, Emilia Ricci, Greta Mainieri, Alessandro Rocca, Maria Margherita Mancardi, Lucio Giordano, Dario Pruna, Aglaia Vignoli, Federica Provini, Duccio Maria Cordelli
المصدر: Frontiers in Neurology, Vol 12 (2021)
مصطلحات موضوعية: PKS, SDSC, video polysomnography, sleep disorders, rare disease, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Anna Fetta, Luca Soliani, Alessia Trevisan, Rosa Pugliano, Emilia Ricci, Veronica Di Pisa, Veronica Pignataro, Marida Angotti, Alessandro Rocca, Bianca Salce, Maria Margherita Mancardi, Lucio Giordano, Dario Pruna, Antonia Parmeggiani, Duccio Maria Cordelli
المصدر: Genes, Vol 13, Iss 2, p 356 (2022)
مصطلحات موضوعية: PKS, tetrasomy 12p, Sensory Profile 2, Bayley-3, Vineland-II, stereotypies, Genetics, QH426-470
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Duccio Maria Cordelli, Veronica Di Pisa, Anna Fetta, Livia Garavelli, Lucia Maltoni, Luca Soliani, Emilia Ricci
المصدر: Genes, Vol 12, Iss 7, p 982 (2021)
مصطلحات موضوعية: ZEB2, neural crest, GABAergic transmission, corpus callosum, epilepsy, sleep disorders, Genetics, QH426-470
وصف الملف: electronic resource
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8
المؤلفون: Luca Soliani, Adrián Alcalá San Martín, Sol Balsells, Cristina Hernando‐Davalillo, Juan Darío Ortigoza‐Escobar
المصدر: Movement Disorders Clinical Practice. 10:547-557
مصطلحات موضوعية: Neurology, Neurology (clinical)
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9
المؤلفون: Luca Soliani, Loreto Martorell, Delia Yubero, Carla Verges, Vincent Petit, Juan Darío Ortigoza‐Escobar
المصدر: Mov Disord Clin Pract
مصطلحات موضوعية: Neurology, Neurology (clinical), Case Reports
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8824f38f3fe01a0c85c5de4d9a620dfb
https://europepmc.org/articles/PMC8810440/ -
10
المؤلفون: Luca Soliani, Juha Koskenvuo, Susanna Rizzi, Carlo Fusco, Miika Mehine, Carlotta Spagnoli, Daniele Frattini, Grazia Gabriella Salerno
المصدر: Journal of Neuro-Ophthalmology. 41:e85-e88
مصطلحات موضوعية: Ophthalmology, Pathology, medicine.medical_specialty, business.industry, Congenital fibrosis of the extraocular muscles, medicine, Neurology (clinical), medicine.disease, business, Phenotype
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fe7c31a858329872c5e2a5cbfceb98d1
https://doi.org/10.1097/wno.0000000000000921