يعرض 1 - 10 نتائج من 80 نتيجة بحث عن '"Epifanio, Roberta"', وقت الاستعلام: 0.87s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients

    المؤلفون: Orsini, Alessandro, Santangelo, Andrea, Bravin, Francesca, Bonuccelli, Alice, Peroni, Diego, Battini, Roberta, Foiadelli, Thomas, Bertini, Veronica, Valetto, Angelo, Iacomino, Michele, Nigro, Vincenzo, Torella, Anna Laura, Scala, Marcello, Capra, Valeria, Vari, Maria Stella, Fetta, Anna, Di Pisa, Veronica, Montanari, Francesca, Epifanio, Roberta, Bonanni, Paolo, Giorda, Roberto, Operto, Francesca, Pastorino, Grazia, Sarigecili, Esra, Sardaroglu, Esra, Okuyaz, Cetin, Bozdogan, Sevgan, Musante, Luciana, Faletra, Flavio, Zanus, Caterina, Ferretti, Alessandro, Vigevano, Federico, Striano, Pasquale, Cordelli, Duccio Maria

    المساهمون: Orsini, Alessandro, Santangelo, Andrea, Bravin, Francesca, Bonuccelli, Alice, Peroni, Diego, Battini, Roberta, Foiadelli, Thoma, Bertini, Veronica, Valetto, Angelo, Iacomino, Michele, Nigro, Vincenzo, Torella, Anna Laura, Scala, Marcello, Capra, Valeria, Vari, Maria Stella, Fetta, Anna, Di Pisa, Veronica, Montanari, Francesca, Epifanio, Roberta, Bonanni, Paolo, Giorda, Roberto, Operto, Francesca, Pastorino, Grazia, Sarigecili, Esra, Sardaroglu, Esra, Okuyaz, Cetin, Bozdogan, Sevgan, Musante, Luciana, Faletra, Flavio, Zanus, Caterina, Ferretti, Alessandro, Vigevano, Federico, Striano, Pasquale, Cordelli, Duccio Maria

    مصطلحات موضوعية: CSNK2B, Pobind, epilepsy, neurodevelopment, seizure, Child, Developmental Disabilitie, Human, Phenotype, Retrospective Studie, Syndrome, Intellectual Disability

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35205321; info:eu-repo/semantics/altIdentifier/wos/WOS:000763276000001; volume:13; issue:2; numberofpages:15; journal:GENES; https://hdl.handle.net/11568/1157833Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85124084248; https://www.mdpi.com/2073-4425/13/2/276Test

    الإتاحة: https://doi.org/10.3390/genes13020276Test
    https://hdl.handle.net/11568/1157833Test
    https://www.mdpi.com/2073-4425/13/2/276Test

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  2. 2
    دورية أكاديمية
    Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients

    المؤلفون: Bravin, Francesca, Orsini, Alessandro, Santangelo, Andrea, Bonuccelli, Alice, Peroni, Diego, Battini, Roberta, Foiadelli, Thomas, Bertini, Veronica, Valetto, Angelo, Iacomino, Michele, Nigro, Vincenzo, Torella, Anna Laura, Scala, Marcello, Capra, Valeria, Vari, Maria Stella, Fetta, Anna, Di Pisa, Veronica, Montanari, Francesca, Epifanio, Roberta, Bonanni, Paolo, Giorda, Roberto, Operto, Francesca, Pastorino, Grazia, Sarigecili, Esra, OKUYAZ, ÇETİN, Bozdogan, Sevgan, Musante, Luciana, Faletra, Flavio, Zanus, Caterina, Ferretti, Alessandro, Vigevano, Federico, Striano, Pasquale, Cordelli, Duccio Maria, Sardaroglu, ESRA

    العلاقة: 1931707b-81eb-4cfb-aeb2-482a8038bd0f; https://avesis.gazi.edu.tr/publication/details/1931707b-81eb-4cfb-aeb2-482a8038bd0f/oaiTest

    الإتاحة: https://doi.org/10.3390/genes13020276Test
    https://avesis.gazi.edu.tr/publication/details/1931707b-81eb-4cfb-aeb2-482a8038bd0f/oaiTest

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  3. 3
    دورية أكاديمية
    Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study

    المؤلفون: Raviglione, Federico, Douzgou, Sofia, Scala, Marcello, Mingarelli, Alessia, D'Arrigo, Stefano, Freri, Elena, Darra, Francesca, Giglio, Sabrina, Bonaglia, Maria C, Pantaleoni, Chiara, Mastrangelo, Massimo, Epifanio, Roberta, Elia, Maurizio, Saletti, Veronica, Morlino, Silvia, Vari, Maria Stella, De Liso, Paola, Pavaine, Julija, Spaccini, Luigina, Cattaneo, Elisa, Gardella, Elena, Møller, Rikke S, Marchese, Francesca, Colonna, Clara, Gandioli, Claudia, Gobbi, Giuseppe, Ram, Dipak, Palumbo, Orazio, Carella, Massimo, Germano, Michele, Tonduti, Davide, De Angelis, Diego, Caputo, Davide, Bergonzini, Patrizia, Novara, Francesca, Zuffardi, Orsetta, Verrotti, Alberto, Orsini, Alessandro, Bonuccelli, Alice, De Muto, Maria Carmela, Trivisano, Marina, Vigevano, Federico, Granata, Tiziana, Bernardina, Bernardo Dalla, Tranchina, Antonia, Striano, Pasquale

    المصدر: Seizure ; volume 88, page 60-72 ; ISSN 1059-1311

    مصطلحات موضوعية: Neurology (clinical), Neurology, General Medicine

    الإتاحة: https://doi.org/10.1016/j.seizure.2021.03.025Test
    https://api.elsevier.com/content/article/PII:S1059131121001072?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S1059131121001072?httpAccept=text/plainTest

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  4. 4
    دورية أكاديمية
    Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

    المؤلفون: Ivanovski, Ivan, Djuric, Olivera, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, POLLAZZON, MARZIA, Rosato, Simonetta, CORDELLI, DUCCIO MARIA, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Ajmone, Paola Francesca, Badura-Stronka, Magdalena, Baldo, Chiara, Baldi, Maddalena, Bayat, Allan, Bigoni, Stefania, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, De Brasi, Daniele, Devriendt, Koenraad, Dinulos, Mary Beth, Hjortshøj, Tina Duelund, Epifanio, Roberta, Faravelli, Francesca, Fiumara, Agata, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Kuburovic, Vladimir, Kutkowska-Kazmierczak, Anna, Lacombe, Didier, Lo Rizzo, Caterina, Luchetti, Anna, Malbora, Baris, Mammi, Isabella, Mari, Francesca, Montorsi, Giulia, Moutton, Sebastien, Møller, Rikke S, Muschke, Petra, Nielsen, Jens Erik Klint, Obersztyn, Ewa, Pantaleoni, Chiara, Pellicciari, Alessandro, Pisanti, Maria Antonietta, Prpic, Igor, Poch-Olive, Maria Luisa, Raviglione, Federico, Renieri, Alessandra, Ricci, Emilia, Rivieri, Francesca, Santen, Gijs W, Savasta, Salvatore, Scarano, Gioacchino, Schanze, Ina, Selicorni, Angelo, Silengo, Margherita, Smigiel, Robert, Spaccini, Luigina, Sorge, Giovanni, Szczaluba, Krzysztof, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zenker, Martin, Conidi, Andrea, Zollino, Marcella, Rauch, Anita, Zweier, Christiane, Garavelli, Livia

    المساهمون: Ivanovski, Ivan, Djuric, Olivera, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Rosato, Simonetta, Cordelli, DUCCIO MARIA, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Ajmone, Paola Francesca, Badura-Stronka, Magdalena, Baldo, Chiara, Baldi, Maddalena, Bayat, Allan, Bigoni, Stefania, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, De Brasi, Daniele, Devriendt, Koenraad, Dinulos, Mary Beth, Hjortshøj, Tina Duelund, Epifanio, Roberta, Faravelli, Francesca, Fiumara, Agata, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Kuburovic, Vladimir, Kutkowska-Kazmierczak, Anna, Lacombe, Didier, Lo Rizzo, Caterina, Luchetti, Anna, Malbora, Bari, Mammi, Isabella, Mari, Francesca, Montorsi, Giulia, Moutton, Sebastien, Møller, Rikke S, Muschke, Petra, Nielsen, Jens Erik Klint, Obersztyn, Ewa, Pantaleoni, Chiara, Pellicciari, Alessandro, Pisanti, Maria Antonietta, Prpic, Igor, Poch-Olive, Maria Luisa, Raviglione, Federico, Renieri, Alessandra, Ricci, Emilia, Rivieri, Francesca, Santen, Gijs W, Savasta, Salvatore, Scarano, Gioacchino, Schanze, Ina, Selicorni, Angelo, Silengo, Margherita, Smigiel, Robert, Spaccini, Luigina, Sorge, Giovanni, Szczaluba, Krzysztof, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zenker, Martin, Conidi, Andrea, Zollino, Marcella, Rauch, Anita, Zweier, Christiane, Garavelli, Livia

    مصطلحات موضوعية: Hirschsprung, intellectual disability, management, Mowat–Wilson syndrome, ZEB2

    وصف الملف: STAMPA

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29300384; info:eu-repo/semantics/altIdentifier/wos/WOS:000445531800009; volume:20; issue:9; firstpage:965; lastpage:975; numberofpages:11; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11365/1033385Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85050603332

    الإتاحة: https://doi.org/10.1038/gim.2017.221Test
    http://hdl.handle.net/11365/1033385Test

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  5. 5
    دورية أكاديمية
    Novel epilepsy phenotype associated to a known SCN8A mutation

    المؤلفون: Epifanio, Roberta, Zanotta, Nicoletta, Giorda, Roberto, Bardoni, Alessandra, Zucca, Claudio

    المصدر: Seizure ; volume 67, page 15-17 ; ISSN 1059-1311

    مصطلحات موضوعية: Neurology (clinical), Neurology, General Medicine

    الإتاحة: https://doi.org/10.1016/j.seizure.2019.01.017Test
    https://api.elsevier.com/content/article/PII:S1059131118308227?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S1059131118308227?httpAccept=text/plainTest

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  6. 6
    دورية أكاديمية
    Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

    المؤلفون: Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, IUGHETTI, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Baris, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R.

    المساهمون: Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Bari, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R.

    مصطلحات موضوعية: Disability, Congenital malformations, ZEB2 gene

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27831545; info:eu-repo/semantics/altIdentifier/wos/WOS:000402517400012; volume:19; issue:6; firstpage:691; lastpage:700; numberofpages:10; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11380/1150468Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85020205876

    الإتاحة: https://doi.org/10.1038/gim.2016.176Test
    http://hdl.handle.net/11380/1150468Test

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  7. 7
    دورية أكاديمية
    Lacosamide effectiveness and tolerability in patients with drug-resistant epilepsy and severe disability under polytherapy: Therapy optimization as emerging from an observational study

    المؤلفون: Pozzi, Marco, Zanotta, Nicoletta, Epifanio, Roberta, Baldelli, Sara, Cattaneo, Dario, Clementi, Emilio, Zucca, Claudio

    المصدر: Epilepsy & Behavior ; volume 128, page 108598 ; ISSN 1525-5050

    مصطلحات موضوعية: Behavioral Neuroscience, Neurology (clinical), Neurology

    الإتاحة: https://doi.org/10.1016/j.yebeh.2022.108598Test
    https://api.elsevier.com/content/article/PII:S1525505022000476?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S1525505022000476?httpAccept=text/plainTest

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  8. 8
    دورية أكاديمية
    Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals

    المؤلفون: Ricci, Emilia, Fetta, Anna, Garavelli, Livia, Caraffi, Stefano, Ivanovski, Ivan, Bonanni, Paolo, Accorsi, Patrizia, Giordano, Lucio, Pantaleoni, Chiara, Romeo, Antonino, Arena, Alessia, Bonetti, Silvia, Boni, Antonella, Chiarello, Daniela, Di Pisa, Veronica, Epifanio, Roberta, Faravelli, Francesca, Finardi, Erica, Fiumara, Agata, Grioni, Daniele, Mammi, Isabella, Negrin, Susanna, Osanni, Elisa, Raviglione, Federico, Rivieri, Francesca, Rizzi, Romana, Savasta, Salvatore, Tarani, Luigi, Zanotta, Nicoletta, Dormi, Ada, Vignoli, Aglaia, Canevini, Mariapaola, Cordelli, Duccio M

    المساهمون: Ricci, Emilia, Fetta, Anna, Garavelli, Livia, Caraffi, Stefano, Ivanovski, Ivan, Bonanni, Paolo, Accorsi, Patrizia, Giordano, Lucio, Pantaleoni, Chiara, Romeo, Antonino, Arena, Alessia, Bonetti, Silvia, Boni, Antonella, Chiarello, Daniela, Di Pisa, Veronica, Epifanio, Roberta, Faravelli, Francesca, Finardi, Erica, Fiumara, Agata, Grioni, Daniele, Mammi, Isabella, Negrin, Susanna, Osanni, Elisa, Raviglione, Federico, Rivieri, Francesca, Rizzi, Romana, Savasta, Salvatore, Tarani, Luigi, Zanotta, Nicoletta, Dormi, Ada, Vignoli, Aglaia, Canevini, Mariapaola, Cordelli, Duccio M

    مصطلحات موضوعية: Age dependent pattern, Genetic epilepsy, MWS, ZEB2

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34619538; info:eu-repo/semantics/altIdentifier/wos/WOS:000708572300004; volume:124; firstpage:1; lastpage:11; numberofpages:11; journal:EPILEPSY & BEHAVIOR; https://hdl.handle.net/11573/1680000Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118690797

    الإتاحة: https://doi.org/10.1016/j.yebeh.2021.108315Test
    https://hdl.handle.net/11573/1680000Test

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  9. 9
    دورية أكاديمية
    Electroclinical pattern in MECP2 duplication syndrome: Eight new reported cases and review of literature

    المؤلفون: Vignoli, Aglaia, Borgatti, Renato, Peron, Angela, Zucca, Claudio, Ballarati, Lucia, Bonaglia, Clara, Bellini, Melissa, Giordano, Lucio, Romaniello, Romina, Bedeschi, Maria Francesca, Epifanio, Roberta, Russo, Silvia, Caselli, Rossella, Giardino, Daniela, Darra, Francesca, La Briola, Francesca, Banderali, Giuseppe, Canevini, Maria Paola

    المصدر: Epilepsia ; volume 53, issue 7, page 1146-1155 ; ISSN 0013-9580 1528-1167

    الإتاحة: https://doi.org/10.1111/j.1528-1167.2012.03501.xTest

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  10. 10
    دورية أكاديمية
    A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation

    المؤلفون: Romaniello, Romina, Zucca, Claudio, Tonelli, Alessandra, Bonato, Sara, Baschirotto, Cinzia, Zanotta, Nicoletta, Epifanio, Roberta, Righini, Andrea, Bresolin, Nereo, Bassi, Maria T, Borgatti, Renato

    مصطلحات موضوعية: Short reports

    وصف الملف: text/html

    العلاقة: http://jnnp.bmj.com/cgi/content/short/81/8/840Test; http://dx.doi.org/10.1136/jnnp.2008.163402Test

    الإتاحة: https://doi.org/10.1136/jnnp.2008.163402Test
    http://jnnp.bmj.com/cgi/content/short/81/8/840Test

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