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1دورية أكاديمية
المؤلفون: Tiziana Fioretti, Fabrizio Martora, Ilaria De Maggio, Adelaide Ambrosio, Carmelo Piscopo, Sabrina Vallone, Felice Amato, Diego Passaro, Fabio Acquaviva, Francesca Gaudiello, Daniela Di Girolamo, Valeria Maiolo, Federica Zarrilli, Speranza Esposito, Giuseppina Vitiello, Luigi Auricchio, Elena Sammarco, Daniele De Brasi, Roberta Petillo, Antonella Gambale, Fabio Cattaneo, Rosario Ammendola, Paola Nappa, Gabriella Esposito
المصدر: Biomedicines, Vol 12, Iss 5, p 1112 (2024)
مصطلحات موضوعية: congenital nonsyndromic ichthyosis, molecular diagnosis, splicing variant, X-linked ichthyosis, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Maria Anna Siano, Ilaria De Maggio, Roberta Petillo, Dario Cocciadiferro, Emanuele Agolini, Massimo Majolo, Antonio Novelli, Matteo Della Monica, Carmelo Piscopo
المصدر: Pediatric Reports, Vol 14, Iss 1, Pp 131-139 (2022)
مصطلحات موضوعية: KMT2C, Kleefstra syndrome 2, intellectual disability, Medicine, Pediatrics, RJ1-570
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Alberto Palladino, Andrea Antonio Papa, Roberta Petillo, Marianna Scutifero, Salvatore Morra, Luigia Passamano, Vincenzo Nigro, Luisa Politano
المصدر: Genes, Vol 13, Iss 2, p 258 (2022)
مصطلحات موضوعية: progressive cardiac conduction disease, atrio-ventricular block, right bundle branch block, Cardiac channelopathy, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Chiara Orsini, Roberta Petillo, Paola D'Ambrosio, Manuela Ergoli, Esther Picillo, Marianna Scutifero, Luigia Passamano, Alessandro De Luca, Luisa Politano
المصدر: Frontiers in Neurology, Vol 11 (2020)
مصطلحات موضوعية: CLCN1 mutations, myotonia congenita, Becker myotonia, Thomsen myotonia, southern Italy, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2020.00063/fullTest; https://doaj.org/toc/1664-2295Test
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5دورية أكاديمية
المؤلفون: Raffaella Cascella, Claudia Strafella, Valerio Caputo, Rosaria Maria Galota, Valeria Errichiello, Marianna Scutifero, Roberta Petillo, Gian Luca Marella, Mauro Arcangeli, Luca Colantoni, Stefania Zampatti, Enzo Ricci, Giancarlo Deidda, Luisa Politano, Emiliano Giardina
المصدر: Frontiers in Neurology, Vol 9 (2018)
مصطلحات موضوعية: facioscapulohumeral muscular dystrophy, DUX4 gene, SMCHD1 gene, methylation analysis, neuromuscular symptoms, genetic counseling, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2018.01027/fullTest; https://doaj.org/toc/1664-2295Test
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6دورية أكاديمية
المؤلفون: Marika Pane, Giorgia Coratti, Claudia Brogna, Elena Stacy Mazzone, Anna Mayhew, Lavinia Fanelli, Sonia Messina, Adele D'Amico, Michela Catteruccia, Marianna Scutifero, Silvia Frosini, Valentina Lanzillotta, Giulia Colia, Filippo Cavallaro, Enrica Rolle, Roberto De Sanctis, Nicola Forcina, Roberta Petillo, Andrea Barp, Alice Gardani, Antonella Pini, Giulia Monaco, Maria Grazia D'Angelo, Riccardo Zanin, Gian Luca Vita, Claudio Bruno, Tiziana Mongini, Federica Ricci, Elena Pegoraro, Luca Bello, Angela Berardinelli, Roberta Battini, Valeria Sansone, Emilio Albamonte, Giovanni Baranello, Enrico Bertini, Luisa Politano, Maria Pia Sormani, Eugenio Mercuri
المصدر: PLoS ONE, Vol 13, Iss 6, p e0199223 (2018)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC6010252?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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7دورية أكاديمية
المؤلفون: Elena S Mazzone, Giorgia Coratti, Maria Pia Sormani, Sonia Messina, Marika Pane, Adele D'Amico, Giulia Colia, Lavinia Fanelli, Angela Berardinelli, Alice Gardani, Valentina Lanzillotta, Paola D'Ambrosio, Roberta Petillo, Filippo Cavallaro, Silvia Frosini, Luca Bello, Serena Bonfiglio, Roberto De Sanctis, Enrica Rolle, Nicola Forcina, Francesca Magri, Gianluca Vita, Concetta Palermo, Maria Alice Donati, Elena Procopio, Maria Teresa Arnoldi, Giovanni Baranello, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Yvan Torrente, Stefano C Previtali, Claudio Bruno, Luisa Politano, Giacomo P Comi, Maria Grazia D'Angelo, Enrico Bertini, Eugenio Mercuri
المصدر: PLoS ONE, Vol 11, Iss 3, p e0151445 (2016)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC4794120?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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8دورية أكاديمية
المصدر: Intractable & Rare Diseases Research. 2017, 6(2):95
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المؤلفون: Brasi Davide De, Vincenzo Novizio, Livia Barba, Elisabetta Scarano, Domenico Serino, Roberto Novizio, Monica Matteo Della, Roberta Petillo, Francesco Scavuzzo
المصدر: Endocrine Abstracts.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::151516305327dd849f17245c148e544dTest
https://doi.org/10.1530/endoabs.81.p313Test -
10
المؤلفون: Marianna, Scutifero, Michele, Lanza, Roberta, Petillo, Maddalena, De Bernardo, Luigia, Passamano, Nicola, Rosa, Luisa, Politano
المساهمون: Scutifero, Marianna, Lanza, Michele, Petillo, Roberta, De Bernardo, Maddalena, Passamano, Luigia, Rosa, Nicola, Politano, Luisa
مصطلحات موضوعية: Adult, Male, Steinert disease, cataract, prevalence, gender, Humans, Myotonic Dystrophy, Myotonic Dystrophy type 1, Female, Cataract Extraction, cataract surgery, Muscular Dystrophies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::600503ef7f1c085044a3a0db79887d5aTest
https://hdl.handle.net/11591/484213Test