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31دورية أكاديمية
المؤلفون: Corti, Claudia, Poggi, Geraldina, Romaniello, Romina, Strazzer, Sandra, Urgesi, Cosimo, Borgatti, Renato, Bardoni, Alessandra
المساهمون: Corti, Claudia, Poggi, Geraldina, Romaniello, Romina, Strazzer, Sandra, Urgesi, Cosimo, Borgatti, Renato, Bardoni, Alessandra
مصطلحات موضوعية: Adolescent, Brain Damage, Chronic, Brain Injurie, Child, Cognitive Dysfunction, Feasibility Studie, Female, Human, Italy, Language, Male, Research Design, Telerehabilitation, Video Game, Therapy, Computer-Assisted
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000435655600040; volume:13; issue:6; firstpage:e0199001; journal:PLOS ONE; http://hdl.handle.net/11390/1143829Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85048817544
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32دورية أكاديمية
المؤلفون: Nuovo, Sara, Fuiano, Laura, Micalizzi, Alessia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Caridi, Gianluca, D'Arrigo, Stefano, Fazzi, Elisa, Fischetto, Rita, Ghiggeri, Gian Marco, Giordano, Lucio, Leuzzi, Vincenzo, Romaniello, Romina, Signorini, Sabrina, Stringini, Gilda, Zanni, Ginevra, Romani, Marta, Valente, Enza Maria, Emma, Francesco
المساهمون: Nuovo, Sara, Fuiano, Laura, Micalizzi, Alessia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Caridi, Gianluca, D'Arrigo, Stefano, Fazzi, Elisa, Fischetto, Rita, Ghiggeri, Gian Marco, Giordano, Lucio, Leuzzi, Vincenzo, Romaniello, Romina, Signorini, Sabrina, Stringini, Gilda, Zanni, Ginevra, Romani, Marta, Valente, Enza Maria, Emma, Francesco
مصطلحات موضوعية: Joubert syndrome, juvenile nephronophthisi, chronic kidney disease, inherited ciliopathies
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30403813; info:eu-repo/semantics/altIdentifier/wos/WOS:000593117800016; journal:NEPHROLOGY DIALYSIS TRANSPLANTATION; http://hdl.handle.net/11573/1298771Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074993028
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33دورية أكاديمية
المؤلفون: Pasca, Ludovica, Politano, Davide, Cavallini, Anna, Panzeri, Elena, Vigone, Maria Cristina, Baldoli, Cristina, Abbate, Marco, Kullmann, Gaia, Marelli, Susan, Pozzobon, Gabriella, Vincenzi, Gaia, Nacinovich, Renata, Bassi, Maria Teresa, Romaniello, Romina
المساهمون: Italian Ministry of Health
المصدر: Neuropediatrics ; volume 55, issue 03, page 191-195 ; ISSN 0174-304X 1439-1899
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34دورية أكاديمية
المؤلفون: Della Vecchia, Stefania, Tessa, Alessandra, Dosi, Claudia, Baldacci, Jacopo, Pasquariello, Rosa, Antenora, Antonella, Astrea, Guja, Bassi, Maria Teresa, Battini, Roberta, Casali, Carlo, Ciof, Ettore, Conti, Greta, De Michele, Giovanna, Ferrari, Anna Rita, Filla, Alessandro, Fiorillo, Chiara, Fusco, Carlo, Gallone, Salvatore, Germiniasi, Chiara, Guerrini, Renzo, Haggiag, Shalom, Lopergolo, Diego, Martinuzzi, Andrea, Melani, Federico, Mignarri, Andrea, Panzeri, Elena, Pini, Antonella, Pinto, Anna Maria, Pochiero, Francesca, Primiano, Guido, Procopio, Elena, Renieri, Alessandra, Romaniello, Romina, Sancricca, Cristina, Servidei, Serenella, Spagnoli, Carlotta, Ticci, Chiara, Rubegni, Anna, Santorelli, Filippo Maria
المصدر: Journal of Neurology ; volume 270, issue 4, page 2345-2346 ; ISSN 0340-5354 1432-1459
مصطلحات موضوعية: Neurology (clinical), Neurology
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35دورية أكاديمية
المؤلفون: Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Mélanie, Capri, Yline, Heron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C., Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, Kini, Usha, Philippe, Christophe
المساهمون: Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté COMUE (UBFC), Oxford University Hospitals NHS Trust, University of Oxford, Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone CHU - APHM (TIMONE), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), IRCCS Eugenio Medea, IRCCS, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Hôpital Robert Debré Paris, Hôpital Robert Debré, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau APHP, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), University of Medicine and Pharmacy “Carol Davila” Bucharest (UMPCD), Oxford NIHR Biomedical Research Centre, Children's Hospital of Pittsburgh of UPMC Etats-Unis, Department of Clinical Genetics, Sheffield Children's NHS Foundation Trust, University Hospitals Leicester, CHU de Grenoble-Alpes, Département de génétique médicale Hôpital de la Timone - APHM, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Erasmus University Medical Center Rotterdam (Erasmus MC), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Plateau technique de Biologie CHU de Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Health Innovation Challenge Fund
المصدر: ISSN: 1098-3600.
مصطلحات موضوعية: WWOX, encephalopathy, epilepsy, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30356099; hal-01932796; https://amu.hal.science/hal-01932796Test; https://amu.hal.science/hal-01932796/documentTest; https://amu.hal.science/hal-01932796/file/s41436-018-0339-3.pdfTest; PUBMED: 30356099; PUBMEDCENTRAL: PMC6752669
الإتاحة: https://doi.org/10.1038/s41436-018-0339-3Test
https://amu.hal.science/hal-01932796Test
https://amu.hal.science/hal-01932796/documentTest
https://amu.hal.science/hal-01932796/file/s41436-018-0339-3.pdfTest -
36دورية أكاديمية
المؤلفون: Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Melanie, Capri, Yline, Héron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C., Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, Kini, Usha, Philippe, Christophe
المصدر: Genetics in Medicine ; volume 21, issue 7, page 1-5 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1038/s41436-019-0460-yTest
http://www.nature.com/articles/s41436-019-0460-y.pdfTest
http://www.nature.com/articles/s41436-019-0460-yTest
https://api.elsevier.com/content/article/PII:S1098360021017068?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021017068?httpAccept=text/plainTest -
37دورية أكاديمية
المؤلفون: Nuovo, Sara, Micalizzi, Alessia, Romaniello, Romina, Arrigoni, Filippo, Ginevrino, Monia, Casella, Antonella, Serpieri, Valentina, D'Arrigo, Stefano, Briguglio, Marilena, Salerno, Grazia Gabriella, Rossato, Sara, Sartori, Stefano, Leuzzi, Vincenzo, Battini, Roberta, Ben-Zeev, Bruria, Graziano, Claudio, Mirabelli Badenier, Marisol, Brankovic, Vesna, Nardocci, Nardo, Spiegel, Ronen, Petković Ramadža, Danijela, Vento, Giovanni, Marti, Itxaso, Simonati, Alessandro, Dipresa, Savina, Freri, Elena, Mazza, Tommaso, Bassi, Maria Teresa, Bosco, Luca, Travaglini, Lorena, Zanni, Ginevra, Bertini, Enrico Silvio, Vanacore, Nicola, Borgatti, Renato, Valente, Enza Maria
المساهمون: Nuovo, Sara, Micalizzi, Alessia, Romaniello, Romina, Arrigoni, Filippo, Ginevrino, Monia, Casella, Antonella, Serpieri, Valentina, D'Arrigo, Stefano, Briguglio, Marilena, Salerno, Grazia Gabriella, Rossato, Sara, Sartori, Stefano, Leuzzi, Vincenzo, Battini, Roberta, Ben-Zeev, Bruria, Graziano, Claudio, Mirabelli Badenier, Marisol, Brankovic, Vesna, Nardocci, Nardo, Spiegel, Ronen, Petković Ramadža, Danijela, Vento, Giovanni, Marti, Itxaso, Simonati, Alessandro, Dipresa, Savina, Freri, Elena, Mazza, Tommaso, Bassi, Maria Teresa, Bosco, Luca, Travaglini, Lorena, Zanni, Ginevra, Bertini, Enrico Silvio, Vanacore, Nicola, Borgatti, Renato, Valente, Enza Maria
مصطلحات موضوعية: neonatal diseases and abnormalities, cerebellar diseases, congenital, genetics, genotype, hereditary, medical, phenotype
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34085948; info:eu-repo/semantics/altIdentifier/wos/WOS:000728642300001; volume:59; issue:4; firstpage:399; lastpage:409; numberofpages:11; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11562/1044699Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102197986; https://doi.org/10.1136/jmedgenet-2020-107497Test
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38دورية أكاديمية
المؤلفون: Masnada, Silvia, Alfei, Enrico, Formica, Manuela, Previtali, Roberto, Accorsi, Patrizia, Arrigoni, Filippo, Bonanni, Paolo, Borgatti, Renato, Darra, Francesca, Fusco, Carlo, De Giorgis, Valentina, Giordano, Lucio, La Briola, Francesca, Orcesi, Simona, Osanni, Elisa, Parazzini, Cecilia, Pinelli, Lorenzo, Rebessi, Erika, Romaniello, Romina, Romeo, Antonino, Spagnoli, Carlotta, Uebler, Christian, Varesio, Costanza, Viri, Maurizio, Zucca, Claudio, Pichiecchio, Anna, Veggiotti, Pierangelo
المساهمون: Masnada, Silvia, Alfei, Enrico, Formica, Manuela, Previtali, Roberto, Accorsi, Patrizia, Arrigoni, Filippo, Bonanni, Paolo, Borgatti, Renato, Darra, Francesca, Fusco, Carlo, De Giorgis, Valentina, Giordano, Lucio, La Briola, Francesca, Orcesi, Simona, Osanni, Elisa, Parazzini, Cecilia, Pinelli, Lorenzo, Rebessi, Erika, Romaniello, Romina, Romeo, Antonino, Spagnoli, Carlotta, Uebler, Christian, Varesio, Costanza, Viri, Maurizio, Zucca, Claudio, Pichiecchio, Anna, Veggiotti, Pierangelo
مصطلحات موضوعية: Aicardi syndrome phenotypes, Clinical outcome, Long term electroencephalographic follow-up, Electroencephalography, Humans, Magnetic Resonance Imaging, Retrospective Studies, Aicardi Syndrome, Epilepsy
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36030575; info:eu-repo/semantics/altIdentifier/wos/WOS:000890148500003; volume:142; firstpage:112; lastpage:124; numberofpages:13; journal:CLINICAL NEUROPHYSIOLOGY; https://hdl.handle.net/11562/1079689Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136591887; https://www.clinicalkey.com/#!/content/playContent/1-s2.0-S1388245722008239?returnurl=https://linkinghub.elsevier.com/retrieve/pii/S1388245722008239?showall=true&referrer=https://pubmed.ncbi.nlm.nih.govTest/
الإتاحة: https://doi.org/10.1016/j.clinph.2022.07.496Test
https://hdl.handle.net/11562/1079689Test
https://www.clinicalkey.com/#!/content/playContent/1-s2.0-S1388245722008239?returnurl=https://linkinghub.elsevier.com/retrieve/pii/S1388245722008239?showall=true&referrer=https://pubmed.ncbi.nlm.nih.govTest/ -
39دورية أكاديمية
المؤلفون: Romaniello, Romina, Gagliardi, Chiara, Desalvo, Patrizia, Provenzi, Livio, Battini, Roberta, Bertini, Enrico, Bonati, Maria Teresa, Briguglio, Marilena, D'Arrigo, Stefano, Dotti, Maria Teresa, Giordano, Lucio, Macaluso, Claudio, Moroni, Isabella, Nuovo, Sara, Santucci, Margherita, Signorini, Sabrina, Stanzial, Franco, Valente, Enza Maria, Borgatti, Renato
المساهمون: Romaniello, Romina, Gagliardi, Chiara, Desalvo, Patrizia, Provenzi, Livio, Battini, Roberta, Bertini, Enrico, Bonati, Maria Teresa, Briguglio, Marilena, D'Arrigo, Stefano, Dotti, Maria Teresa, Giordano, Lucio, Macaluso, Claudio, Moroni, Isabella, Nuovo, Sara, Santucci, Margherita, Signorini, Sabrina, Stanzial, Franco, Valente, Enza Maria, Borgatti, Renato
مصطلحات موضوعية: Developmental disability, genetic syndrome, international classification of functioning, joubert syndrome, rare disease
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000652161100001; volume:44; issue:18; firstpage:4966; lastpage:4973; numberofpages:8; journal:DISABILITY AND REHABILITATION; https://hdl.handle.net/11381/2936579Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85106026681
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40دورية أكاديمية
المؤلفون: Micalizzi, Alessia, Poretti, Andrea, Romani, Marta, Ginevrino, Monia, Mazza, Tommaso, Aiello, Chiara, Zanni, Ginevra, Baumgartner, Bastian, Borgatti, Renato, Brockmann, Knut, Camacho, Ana, Cantalupo, Gaetano, Haeusler, Martin, Hikel, Christiane, Klein, Andrea, Mandrile, Giorgia, Mercuri, Eugenio, Rating, Dietz, Romaniello, Romina, Santorelli, Filippo Maria, Schimmel, Mareike, Spaccini, Luigina, Teber, Serap, von Moers, Arpad, Wente, Sarah, Ziegler, Andreas, Zonta, Andrea, Bertini, Enrico, Boltshauser, Eugen, Valente, Enza Maria
المساهمون: Micalizzi, Alessia, Poretti, Andrea, Romani, Marta, Ginevrino, Monia, Mazza, Tommaso, Aiello, Chiara, Zanni, Ginevra, Baumgartner, Bastian, Borgatti, Renato, Brockmann, Knut, Camacho, Ana, Cantalupo, Gaetano, Haeusler, Martin, Hikel, Christiane, Klein, Andrea, Mandrile, Giorgia, Mercuri, Eugenio, Rating, Dietz, Romaniello, Romina, Santorelli, Filippo Maria, Schimmel, Mareike, Spaccini, Luigina, Teber, Serap, von Moers, Arpad, Wente, Sarah, Ziegler, Andreas, Zonta, Andrea, Bertini, Enrico, Boltshauser, Eugen, Valente, Enza Maria
العلاقة: https://resolver.sub.uni-goettingen.de/purl?gro-2/39707Test; 000382310600005
الإتاحة: https://doi.org/10.1038/ejhg.2016.19Test
https://resolver.sub.uni-goettingen.de/purl?gro-2/39707Test