المؤلفون: Marta Cozzi, Stefania Magri, Barbara Tedesco, Guglielmo Patelli, Veronica Ferrari, Elena Casarotto, Marta Chierichetti, Paola Pramaggiore, Laura Cornaggia, Margherita Piccolella, Mariarita Galbiati, Paola Rusmini, Valeria Crippa, Jessica Mandrioli, Davide Pareyson, Chiara Pisciotta, Stefano D’Arrigo, Antonia Ratti, Lorenzo Nanetti, Caterina Mariotti, Elisa Sarto, Viviana Pensato, Cinzia Gellera, Daniela Di Bella, Riccardo M. Cristofani, Franco Taroni, Angelo Poletti

المصدر: Cell Death and Disease, Vol 15, Iss 9, Pp 1-16 (2024)

مصطلحات موضوعية: Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-4889

URL الوصول: https://doaj.org/article/4ee9d6c2a3624724948ed40d302b0625

المؤلفون: Angela Maria Giada Giovenale, Elisa Maria Turco, Martina Mazzoni, Ilaria Ferrone, Barbara Torres, Laura Bernardini, Edvige Vulcano, Daniela Ferrari, Roberta Onesimo, Stefano D’Arrigo, Giuseppe Zampino, Maria Pennuto, Alessandro De Luca, Angelo Luigi Vescovi, Jessica Rosati

المصدر: Stem Cell Research, Vol 81, Iss , Pp 103544- (2024)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506124002423; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/c7d1741ad7fa4ba3a093621038ca309c

المؤلفون: Arianna De Laurentiis, Chiara Pastori, Carmela Pinto, Stefano D’Arrigo, Margherita Estienne, Sara Bulgheroni, Giulia Battaglia, Marco Gemma

المصدر: Frontiers in Psychiatry, Vol 15 (2024)

مصطلحات موضوعية: autism, EEG, sedation, dexmedetomidine, behavioral disturbance, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpsyt.2024.1462526/full; https://doaj.org/toc/1664-0640

URL الوصول: https://doaj.org/article/e3b64f1c4f5d49de9087b652d34762ce

المؤلفون: Silvia Maria Marchese, Fulvia Palesi, Anna Nigri, Maria Grazia Bruzzone, Chiara Pantaleoni, Claudia A. M. Gandini Wheeler-Kingshott, Stefano D’Arrigo, Egidio D’Angelo, Paolo Cavallari

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: cerebellar hypoplasia, cerebellar atrophy, MRI, white matter, gray matter, cerebrocerebellar loops, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1279616/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/8b94a85680eb417389b7e9aafec54585

المؤلفون: Elisa Maria Turco, Angela Maria Giada Giovenale, Laura Sireno, Martina Mazzoni, Alessandra Cammareri, Caterina Marchioretti, Laura Goracci, Alessandra Di Veroli, Elena Marchesan, Daniel D’Andrea, Antonella Falconieri, Barbara Torres, Laura Bernardini, Maria Chiara Magnifico, Alessio Paone, Serena Rinaldo, Matteo Della Monica, Stefano D’Arrigo, Diana Postorivo, Anna Maria Nardone, Giuseppe Zampino, Roberta Onesimo, Chiara Leoni, Federico Caicci, Domenico Raimondo, Elena Binda, Laura Trobiani, Antonella De Jaco, Ada Maria Tata, Daniela Ferrari, Francesca Cutruzzolà, Gianluigi Mazzoccoli, Elena Ziviani, Maria Pennuto, Angelo Luigi Vescovi, Jessica Rosati

المصدر: Cell Death and Disease, Vol 13, Iss 11, Pp 1-16 (2022)

مصطلحات موضوعية: Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-4889

URL الوصول: https://doaj.org/article/3481a3d58ebf491c977d49d933ec8e59

المؤلفون: Sara Hafdaoui, Claudia Ciaccio, Barbara Castellotti, Francesca L. Sciacca, Chiara Pantaleoni, Stefano D'Arrigo

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: FRMD7, idiopathic nystagmus, Turner syndrome, X-linked IIN, X-linked nystagmus, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1199095/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/24af25f031fb42cda4b7583c25f6b092

المؤلفون: Sara Isoldi, Giovanni Di Nardo, Saverio Mallardo, Pasquale Parisi, Umberto Raucci, Renato Tambucci, Paolo Quitadamo, Silvia Salvatore, Enrico Felici, Fabio Cisarò, Licia Pensabene, Claudia Banzato, Caterina Strisciuglio, Claudio Romano, Patrizia Fusco, Francesca Rigotti, Naire Sansotta, Silvia Caimmi, Salvatore Savasta, Giovanna Zuin, Marina Di Stefano, Silvia Provera, Angelo Campanozzi, Paolo Rossi, Simona Gatti, Mara Corpino, Patrizia Alvisi, Stefano Martelossi, Agnese Suppiej, Paolo Gandullia, Alberto Verrotti, Gianluca Terrin, Caterina Pacenza, Fabiola Fornaroli, Donatella Comito, Stefano D’Arrigo, Pasquale Striano, Federico Raviglione, Marco Carotenuto, Alessandro Orsini, Vincenzo Belcastro, Giovanna Di Corcia, Vincenzo Raieli, Michela Ada Noris Ferilli, Claudia Ruscitto, Elisabetta Spadoni, Salvatore Grosso, Renato D’Alonzo, Amanda Papa, Piero Pavone, Mariaclaudia Meli, Mario Velardita, Martina Mainetti, Nicola Vanacore, Osvaldo Borrelli

المصدر: Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Cyclic vomiting, Management, Outcomes, Pediatric, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1824-7288

URL الوصول: https://doaj.org/article/2aea540e6a29406da26f892dd9d53b66

المؤلفون: Silvia Maria Marchese, Roberto Esposti, Veronica Farinelli, Claudia Ciaccio, Arianna De Laurentiis, Stefano D’Arrigo, Paolo Cavallari

المصدر: Brain Sciences, Vol 13, Iss 4, p 620 (2023)

مصطلحات موضوعية: genetic ataxia, generalized cerebellar atrophy, cerebellar vermis hypoplasia, postural control, compensatory strategies, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2076-3425/13/4/620; https://doaj.org/toc/2076-3425

URL الوصول: https://doaj.org/article/3bfc9d5f32de4a1596737fb8649d104e

المؤلفون: Matilde Taddei, Silvia Esposito, Gianluca Marucci, Alessandra Erbetta, Paolo Ferroli, Laura Grazia Valentini, Chiara Pantaleoni, Stefano D’Arrigo, Veronica Saletti, Bianca Pollo, Rosina Paterra, Daria Riva, Sara Bulgheroni

المصدر: Diagnostics, Vol 13, Iss 9, p 1568 (2023)

مصطلحات موضوعية: neurocognitive outcome, behavioral disorders, low-grade brain tumor, children, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-4418/13/9/1568; https://doaj.org/toc/2075-4418

URL الوصول: https://doaj.org/article/1b71910ce9294f37b4b7cc8466d2a245

المؤلفون: Xianru Jiao, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, Stefano D’Arrigo, Claudia Ciaccio, Chiara Pantaleoni, Pan Gong, Katheryn Grand, Pedro A. Sanchez-Lara, Joel Krier, Elizabeth Fieg, Andrew Stergachis, Xiaodong Wang, Zhixian Yang

المصدر: Frontiers in Pharmacology, Vol 11 (2020)

مصطلحات موضوعية: epilepsy, Secretory carrier membrane protein 5, developmental delay, autism spectrum disorder, congenital deformity, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphar.2020.599191/full; https://doaj.org/toc/1663-9812

URL الوصول: https://doaj.org/article/d740c58945824289a9e8fdfb68e49580

المؤلفون: Francesca L. Sciacca, Claudia Ciaccio, Federica Fontana, Camilla Strano, Francesca Gilardoni, Chiara Pantaleoni, Stefano D’Arrigo

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: 15q21.2 microdeletion, infantile developmental disorder with cardiac arrhythmias (IDDCA), GNB5, BCL2L10, MYO5C, epileptic encephalopathy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2020.00399/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/0d5642eb0c884dc1b2430e749c28bd2a

المؤلفون: Chiara Reale, Valeria Tessarollo, Sara Bulgheroni, Silvia Annunziata, Andrea Legati, Daria Riva, Chiara Pantaleoni, Barbara Garavaglia, Stefano D’Arrigo

المصدر: Applied Sciences, Vol 11, Iss 17, p 8096 (2021)

مصطلحات موضوعية: autism spectrum disorder, targeted gene panel, rare inherited variants, family segregation, genetic makeup, Technology, Engineering (General). Civil engineering (General), TA1-2040, Biology (General), QH301-705.5, Physics, QC1-999, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2076-3417/11/17/8096; https://doaj.org/toc/2076-3417

URL الوصول: https://doaj.org/article/4ac7937c687b4a149435a9f9029e9d2e

المؤلفون: Claudia Ciaccio, Chiara Pantaleoni, Franco Taroni, Daniela Di Bella, Stefania Magri, Eleonora Lamantea, Daniele Ghezzi, Enza Maria Valente, Vincenzo Nigro, Stefano D’Arrigo

المصدر: Applied Sciences, Vol 11, Iss 5, p 2333 (2021)

مصطلحات موضوعية: pediatric ataxias, cerebellar atrophy, genetic ataxias, Technology, Engineering (General). Civil engineering (General), TA1-2040, Biology (General), QH301-705.5, Physics, QC1-999, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2076-3417/11/5/2333; https://doaj.org/toc/2076-3417

URL الوصول: https://doaj.org/article/9313a7e49acd4bebaac1e6ab638c8d97

المؤلفون: Stefano D’Arrigo, Carmela Loiacono, Claudia Ciaccio, Chiara Pantaleoni, Flavia Faccio, Matilde Taddei, Sara Bulgheroni

المصدر: Applied Sciences, Vol 11, Iss 2, p 544 (2021)

مصطلحات موضوعية: ataxia, cerebellar hypoplasia, cerebellar atrophy, developmental delay, Technology, Engineering (General). Civil engineering (General), TA1-2040, Biology (General), QH301-705.5, Physics, QC1-999, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2076-3417/11/2/544; https://doaj.org/toc/2076-3417

URL الوصول: https://doaj.org/article/9f2d492f8255438c951bd72d76bfbbe6

المؤلفون: Veronica Farinelli, Chiara Palmisano, Silvia Maria Marchese, Camilla Mirella Maria Strano, Stefano D’Arrigo, Chiara Pantaleoni, Anna Ardissone, Nardo Nardocci, Roberto Esposti, Paolo Cavallari

المصدر: Applied Sciences, Vol 10, Iss 5, p 1606 (2020)

مصطلحات موضوعية: children, gait initiation, postural control, generalized cerebellar atrophy, cerebellar vermis hypoplasia, progressive ataxia, compensatory strategies, Technology, Engineering (General). Civil engineering (General), TA1-2040, Biology (General), QH301-705.5, Physics, QC1-999, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2076-3417/10/5/1606; https://doaj.org/toc/2076-3417

URL الوصول: https://doaj.org/article/ee63023e650a4da9a200deeaa9b66190

المؤلفون: Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L Silhavy, Rasim O Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S Zaki, Kathryn J Swoboda, Joanne Milisa-Drautz, William B Dobyns, Mohamed A Mikati, Faruk İncecik, Matloob Azam, Renato Borgatti, Romina Romaniello, Rose-Mary Boustany, Carol L Clericuzio, Stefano D'Arrigo, Petter Strømme, Eugen Boltshauser, Franco Stanzial, Marisol Mirabelli-Badenier, Isabella Moroni, Enrico Bertini, Francesco Emma, Maja Steinlin, Friedhelm Hildebrandt, Colin A Johnson, Michael Freilinger, Keith K Vaux, Stacey B Gabriel, Pedro Aza-Blanc, Susanne Heynen-Genel, Trey Ideker, Brian D Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim, Joseph G Gleeson

المصدر: eLife, Vol 4 (2015)

مصطلحات موضوعية: Joubert syndrome, ciliopathy, siRNA, high-content screen, KIAA0586, Talpid3, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/06602; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/c3d923b71f264930947bb9ecf4abf7f9

المؤلفون: Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Motta, Massimo Molteni, Corrado Romano, Donatella Greco, Santina Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D'Arrigo, Daria Riva, Francesca Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frederique Bena, Alfredo Brusco, Eleonora di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, Maria Luisa Martinez-Frias, Maria Luisa Martínez-Fernández, Nieves Martínez Guardia, Anna Bremer, Britt-Marie Anderlid, Orsetta Zuffardi

المصدر: PLoS Genetics, Vol 7, Iss 7, p e1002173 (2011)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3136441?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/5c43355a53914e768e4abdfa928036cf

المؤلفون: Camilla Meossi, Alessia Carrer, Claudia Ciaccio, Laura Pezzoli, Lidia Pezzani, Rosa Maria Silipigni, Francesca L. Sciacca, Romano Tenconi, Silvia Esposito, Arianna De Laurentiis, Chiara Pantaleoni, Paola Marchisio, Federica Natacci, Stefano D’Arrigo, Maria Iascone, Donatella Milani

المصدر: Genes ; Volume 15 ; Issue 11 ; Pages: 1441

مصطلحات موضوعية: 15q11.2 microdeletion, 15q11.2 microduplication, BP1-BP2 CNVs, exome sequencing, alternative diagnosis, double diagnosis, rare diseases

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes15111441

الاتاحة: https://doi.org/10.3390/genes15111441

المؤلفون: Giacomo Cusumano, Stefano D’Arrigo, Alberto Terminella, Filippo Lococo

المصدر: Journal of Clinical Medicine, Vol 13, Iss 13, p 3750 (2024)

مصطلحات موضوعية: thoracic surgery, artificial intelligence, computer vision, lung cancer, robotics, Medicine

Relation: https://www.mdpi.com/2077-0383/13/13/3750; https://doaj.org/toc/2077-0383; https://doaj.org/article/c20362a48f894d48898b6f0621274e78

الاتاحة: https://doi.org/10.3390/jcm13133750
https://doaj.org/article/c20362a48f894d48898b6f0621274e78

المؤلفون: Patricia Pascual, Jair Tenorio-Castano, Cyril Mignot, Alexandra Afenjar, Pedro Arias, Natalia Gallego-Zazo, Alejandro Parra, Lucia Miranda, Mario Cazalla, Cristina Silván, Delphine Heron, Boris Keren, Ioana Popa, María Palomares, Emi Rikeros, Feliciano J. Ramos, Berta Almoguera, Carmen Ayuso, Saoud Tahsin Swafiri, Ana Isabel Sánchez Barbero, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Manuela Morleo, Vicenzo Nigro, Stefano D’Arrigo, Claudia Ciaccio, Carmen Martin Mesa, Beatriz Paumard, Gema Guillen, Ana Teresa Serrano Anton, Marta Domínguez Jimenez, Veronica Seidel, Julia Suárez, Valerie Cormier-Daire, The SOGRI Consortium, Julián Nevado, Pablo Lapunzina

المصدر: Genes; Volume 14; Issue 9; Pages: 1664

مصطلحات موضوعية: CHD3, Snijders Blok–Campeau syndrome, overgrowth, neurodevelopmental disorders, SNIBCPS

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14091664

الاتاحة: https://doi.org/10.3390/genes14091664