المؤلفون: Romaniello, Romina, Arrigoni, Filippo, Panzeri, Elena, Poretti, Andrea, Micalizzi, Alessia, Citterio, Andrea, Bedeschi, Maria Francesca, Cusmai, Raffaella, D'Arrigo, Stefano, Ferraris, Alessandro, Hackenberg, Annette, Kuechler, Alma, Mancardi, Margherita, Nuovo, Sara, Oehl Jaschkowitz, Barbara, Rossi, Andrea, Tüttelmann, Frank, Wahl, Dagmar, Hehr, Ute, Boltshauser, Eugen, Bassi, Maria Teresa, Borgatti, Renato, BERARDINELLI, ANGELA LUCIA, SIGNORINI, SABRINA GIOVANNA, VALENTE, ENZA MARIA

المساهمون: Romaniello, Romina, Arrigoni, Filippo, Panzeri, Elena, Poretti, Andrea, Micalizzi, Alessia, Citterio, Andrea, Bedeschi, Maria Francesca, Berardinelli, ANGELA LUCIA, Cusmai, Raffaella, D'Arrigo, Stefano, Ferraris, Alessandro, Hackenberg, Annette, Kuechler, Alma, Mancardi, Margherita, Nuovo, Sara, Oehl Jaschkowitz, Barbara, Rossi, Andrea, Signorini, SABRINA GIOVANNA, Tüttelmann, Frank, Wahl, Dagmar, Hehr, Ute, Boltshauser, Eugen, Bassi, Maria Teresa, Valente, ENZA MARIA, Borgatti, Renato

مصطلحات موضوعية: Cerebellum, Dysplasia, Mutation, Neuroimaging, Tubulin genes

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28677066; journal:EUROPEAN RADIOLOGY; http://hdl.handle.net/11571/1194530Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85021802560

الإتاحة: https://doi.org/10.1007/s00330-017-4945-2Test
http://hdl.handle.net/11571/1194530Test

المؤلفون: Serpieri, Valentina, D’Abrusco, Fulvio, Dempsey, Jennifer C, Cheng, Yong-Han Hank, Arrigoni, Filippo, Baker, Janice, Battini, Roberta, Bertini, Enrico Silvio, Borgatti, Renato, Christman, Angela K, Curry, Cynthia, D'Arrigo, Stefano, Fluss, Joel, Freilinger, Michael, Gana, Simone, Ishak, Gisele E, Leuzzi, Vincenzo, Loucks, Hailey, Manti, Filippo, Mendelsohn, Nancy, Merlini, Laura, Miller, Caitlin V, Muhammad, Ansar, Nuovo, Sara, Romaniello, Romina, Schmidt, Wolfgang, Signorini, Sabrina, Siliquini, Sabrina, Szczałuba, Krzysztof, Vasco, Gessica, Wilson, Meredith, Zanni, Ginevra, Boltshauser, Eugen, Doherty, Dan, Valente, Enza Maria

المصدر: Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 9 p888-894, 7p

المؤلفون: Romaniello, Romina, Arrigoni, Filippo, Fry, Andrew E., Bassi, Maria T., Rees, Mark I., Borgatti, Renato, Pilz, Daniela T., Cushion, Thomas D.

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/113559/3/Tubulin%20Genes%20and%20MCDs-%20Romaniello%202018_Resubmission.pdfTest; Romaniello, Romina, Arrigoni, Filippo, Fry, Andrew E. https://orca.cardiff.ac.uk/view/cardiffauthors/A126971M.htmlTest orcid:0000-0001-9778-6924 orcid:0000-0001-9778-6924, Bassi, Maria T., Rees, Mark I., Borgatti, Renato, Pilz, Daniela T. and Cushion, Thomas D. 2018. Tubulin genes and malformations of cortical development. European Journal of Medical Genetics 61 (12) , pp. 744-754. 10.1016/j.ejmg.2018.07.012 https://doi.org/10.1016/j.ejmg.2018.07.012Test file https://orca.cardiff.ac.uk/id/eprint/113559/3/Tubulin%20Genes%20and%20MCDs-%20Romaniello%202018_Resubmission.pdfTest

الإتاحة: https://doi.org/10.1016/j.ejmg.2018.07.012Test
https://orca.cardiff.ac.uk/id/eprint/113559Test/
https://orca.cardiff.ac.uk/id/eprint/113559/3/Tubulin%20Genes%20and%20MCDs-%20Romaniello%202018_Resubmission.pdfTest

المؤلفون: Arrigoni, Filippo, Romaniello, Romina, Peruzzo, Denis, Righini, Andrea, Parazzini, Cecilia, Colombo, Paola, Bassi, Maria Teresa, Triulzi, Fabio, Borgatti, Renato

المساهمون: Arrigoni, Filippo, Romaniello, Romina, Peruzzo, Deni, Righini, Andrea, Parazzini, Cecilia, Colombo, Paola, Bassi, Maria Teresa, Triulzi, Fabio, Borgatti, Renato

مصطلحات موضوعية: Brain, Corpus callosum, Diffusion tensor imaging, Intellectual disability, Magnetic resonance imaging, Agenesis of Corpus Callosum, Female, Human, Male, Phenotype

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26560723; volume:26; issue:8; firstpage:2587; lastpage:2596; numberofpages:10; journal:EUROPEAN RADIOLOGY; http://hdl.handle.net/11571/1372016Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84946763350; https://link.springer.com/article/10.1007/s00330-015-4084-6Test

الإتاحة: https://doi.org/10.1007/s00330-015-4084-6Test
http://hdl.handle.net/11571/1372016Test

المؤلفون: Butti, Niccolò, Amoruso, Lucia, Fabbro, Franco, Romaniello, Romina, Borgatti, Renato, Urgesi, Cosimo

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bd6886afbb3fbe43397e18a66ab3586eTest

المؤلفون: Arrigoni, Filippo, Romaniello, Romina, Nordio, Andrea, Gagliardi, Chiara, Borgatti, Renato

المساهمون: Arrigoni, Filippo, Romaniello, Romina, Nordio, Andrea, Gagliardi, Chiara, Borgatti, Renato

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26302158; volume:26; issue:14; firstpage:809; lastpage:813; numberofpages:5; journal:NEUROREPORT; http://hdl.handle.net/11571/1372011Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84940941912; https://journals.lww.com/neuroreport/Fulltext/2015/10010/Learning_to_live_without_the_cerebellum.2.aspxTest

الإتاحة: https://doi.org/10.1097/WNR.0000000000000428Test
http://hdl.handle.net/11571/1372011Test
https://journals.lww.com/neuroreport/Fulltext/2015/10010/Learning_to_live_without_the_cerebellum.2.aspxTest

المؤلفون: Romaniello, Romina, Arrigoni, Filippo, Bassi, Maria Teresa, Borgatti, Renato

المساهمون: Romaniello, Romina, Arrigoni, Filippo, Bassi, Maria Teresa, Borgatti, Renato

مصطلحات موضوعية: Brain malformation, Epilepsy, Genotype–phenotype correlation, Malformations of cortical development, Mental retardation, Tubulin gene, Brain, Human, Nervous System Malformation, Tubulin

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25008804; volume:37; issue:3; firstpage:273; lastpage:280; numberofpages:8; journal:BRAIN & DEVELOPMENT; http://hdl.handle.net/11571/1372005Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84930902538; https://www.sciencedirect.com/science/article/pii/S0387760414001375?via=ihubTest

الإتاحة: https://doi.org/10.1016/j.braindev.2014.06.002Test
http://hdl.handle.net/11571/1372005Test
https://www.sciencedirect.com/science/article/pii/S0387760414001375?via=ihubTest

المؤلفون: Romaniello, Romina, Saettini, Francesco, Panzeri, Elena, Arrigoni, Filippo, Bassi, Maria T, Borgatti, Renato

المساهمون: Romaniello, Romina, Saettini, Francesco, Panzeri, Elena, Arrigoni, Filippo, Bassi, Maria T, Borgatti, Renato

مصطلحات موضوعية: Brain, Child, Epilepsy, Female, Human, Munc18 Protein, Phenotype, Rett Syndrome, Mutation, Missense

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25714420; volume:26; issue:5; firstpage:254; lastpage:257; numberofpages:4; journal:NEUROREPORT; http://hdl.handle.net/11571/1372007Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84924973227; https://journals.lww.com/neuroreport/Fulltext/2015/03020/A_de_novo_STXBP1_gene_mutation_in_a_patient.5.aspxTest

الإتاحة: https://doi.org/10.1097/WNR.0000000000000337Test
http://hdl.handle.net/11571/1372007Test
https://journals.lww.com/neuroreport/Fulltext/2015/03020/A_de_novo_STXBP1_gene_mutation_in_a_patient.5.aspxTest

المؤلفون: Gagliardi, Chiara, Brenna, Viola, Romaniello, Romina, Arrigoni, Filippo, Tavano, Alessandro, Romani, Marta, Borgatti, Renato, VALENTE, ENZA MARIA

المساهمون: Gagliardi, Chiara, Brenna, Viola, Romaniello, Romina, Arrigoni, Filippo, Tavano, Alessandro, Romani, Marta, Valente, ENZA MARIA, Borgatti, Renato

مصطلحات موضوعية: psy, socio

العلاقة: http://hdl.handle.net/11571/1180677Test

الإتاحة: http://hdl.handle.net/11571/1180677Test

المؤلفون: Romaniello, Romina, Marelli, Susan, Giorda, Roberto, Bedeschi, Maria F., Bonaglia, Maria C., Arrigoni, Filippo, Triulzi, Fabio, Bassi, Maria T., Borgatti, Renato

المصدر: Journal of Child Neurology ; volume 32, issue 1, page 60-71 ; ISSN 0883-0738 1708-8283

الإتاحة: https://doi.org/10.1177/0883073816664668Test