المؤلفون: Valentina Naef, Maria Lieto, Sara Satolli, Rosa De Micco, Martina Troisi, Rosa Pasquariello, Stefano Doccini, Flavia Privitera, Alessandro Filla, Alessandro Tessitore, Filippo Maria Santorelli

المصدر: Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1879-1886 (2024)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/a437eab8187e40a1ba297e899e00ac27

المؤلفون: Matteo Baggiani, Filippo Maria Santorelli, Serena Mero, Flavia Privitera, Devid Damiani, Alessandra Tessa

المصدر: Stem Cell Research, Vol 79, Iss , Pp 103472- (2024)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506124001703; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/2f0ea1b9c8714043b679ae6330b78eca

المؤلفون: Flavia Privitera, Maria A. Trusso, Floriana Valentino, Gabriella Doddato, Chiara Fallerini, Giulia Brunelli, Romina D’Aurizio, Simone Furini, Arianna Goracci, Andrea Fagiolini, Francesca Mari, Alessandra Renieri, Francesca Ariani

المصدر: Brazilian Journal of Psychiatry, Vol 45, Iss 1, Pp 11-19 (2023)

مصطلحات موضوعية: Bipolar disorder, WES, ZNF92, CLN6, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-44462023000100011&lng=en&tlng=en; http://www.scielo.br/pdf/rbp/v45n1/1516-4446-rbp-45-01-00011.pdf; https://doaj.org/toc/1809-452X

URL الوصول: https://doaj.org/article/01c236d7010942bd81f27b47460bdf65

المؤلفون: Matteo Baggiani, Devid Damiani, Flavia Privitera, Stefania Della Vecchia, Alessandra Tessa, Filippo Maria Santorelli

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 19, p 10614 (2024)

مصطلحات موضوعية: HSP, SPG83, HPDL, hiPS lines, reprogramming protocol, neural differentiation, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/19/10614; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/7bd5c0b64eca4f028f02dfee97c4e5b7

الاتاحة: https://doi.org/10.3390/ijms251910614
https://doaj.org/article/7bd5c0b64eca4f028f02dfee97c4e5b7

المؤلفون: Flavia Privitera, Stefano Pagano, Camilla Meossi, Roberta Battini, Emanuele Bartolini, Domenico Montanaro, Filippo Maria Santorelli

المصدر: Genes, Vol 15, Iss 5, p 548 (2024)

مصطلحات موضوعية: SATB1, WES, phenotype–genotype association, missense variants, premature termination variants, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/5/548; https://doaj.org/toc/2073-4425; https://doaj.org/article/611c51f0da5d41559c8ae31710fdb3cd

الاتاحة: https://doi.org/10.3390/genes15050548
https://doaj.org/article/611c51f0da5d41559c8ae31710fdb3cd

المؤلفون: Flavia Privitera, Flavia Piccini, Maria Paola Recalcati, Silvia Presi, Silvia Mazzola, Paola Carrera

المصدر: Genes; Volume 14; Issue 7; Pages: 1505

مصطلحات موضوعية: 5q deletion syndrome, array-CGH, KCNN2, intellectual disability

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes14071505

الاتاحة: https://doi.org/10.3390/genes14071505

المؤلفون: Buchanan CJ, Gaunt B, Harrison PJ, Yang Y, Liu J, Khan A, Giltrap AM, Le Bas A, Ward PN, Gupta K, Dumoux M, Tan TK, Schimaski L, Daga S, Picchiotti N, Baldassarri M, Benetti E, Fallerini C, Fava F, Giliberti A, Koukos PI, Davy MJ, Lakshminarayanan A, Xue X, Papadakis G, Deimel LP, Casablancas-Antràs V, Claridge TDW, Bonvin AMJJ, Sattentau QJ, Furini S, Gori M, Huo J, Owens RJ, Schaffitzel C, Berger I, Renieri A, Francesca Montagnani, Mario Tumbarello, Ilaria Rancan, Massimiliano Fabbiani, Elena Bargagli, Laura Bergantini, Miriana D’Alessandro, Paolo Cameli, David Bennett, Sabino Scolletta, Federico Franchi, Federico Anedda, Simona Marcantonio, Maria Antonietta Mazzei, Susanna Guerrini, Edoardo Conticini, Luca Cantarini, Bruno Frediani, Danilo Tacconi, Chiara Spertilli Raffaelli, Marco Feri, Alice Donati, Raffaele Scala, Luca Guidelli, Genni Spargi, Marta Corridi, Cesira Nencioni, Leonardo Croci, Gian Piero Caldarelli, Davide Romani, Paolo Piacentini, Maria Bandini, Elena Desanctis, Silvia Cappelli, Anna Canaccini, Agnese Verzuri, Valentina Anemoli, Manola Pisani, Agostino Ognibene, Alessandro Pancrazzi, Maria Lorubbio, Massimo Vaghi, Antonella D’Arminio Monforte, Federica Gaia Miraglia, Mario U. Mondelli, Marco Vecchia, Stefania Mantovani, Raffaele Bruno, Marcello Maffezzoni, Massimo Girardis, Sophie Venturelli, Stefano Busani, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Arianna Emiliozzi, Stefano Rusconi, Matteo Siano, Arianna Gabrieli, Agostino Riva, Daniela Francisci, Elisabetta Schiaroli, Andrea Tommasi, Pier Giorgio Scotton, Francesca Andretta, Sandro Panese, Stefano Baratti, Renzo Scaggiante, Francesca Gatti, Saverio Giuseppe Parisi, Francesco Castelli, Eugenia Quiros-Roldan, Melania Degli Antoni, Isabella Zanella, Matteo Della Monica, Carmelo Piscopo, Mario Capasso, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Giuseppe Fiorentino, Massimo Carella, Marco Castori, Giuseppe Merla, Gabriella Maria Squeo, Filippo Aucella, Pamela Raggi, Rita Perna, Matteo Bassetti, Antonio Di Biagio, Maurizio Sanguinetti, Luca Masucci, Alessandra Guarnaccia, Serafina Valente, Alex Di Florio, Francesca Mari, Mirella Bruttini, Ilaria Meloni, Susanna Croci, Gabriella Doddato, Flavia Privitera, Loredaria Adamo, Viola Bianca Serio, Enrica Antonili, Mirjam Lista, Giada Beligni, Debora Maffeo, Elena Pasquinelli, Kristina Zguro, Giulia Brunelli, Rossella Tita, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Anna Maria Pinto, Francesca Ariani, Marco Mandalà, Alessia Giorli, Lorenzo Salerni, Patrizia Zucchi, Pierpaolo Parravicini, Elisabetta Menatti, Tullio Trotta, Ferdinando Giannattasio, Gabriella Coiro, Fabio Lena, Gianluca Lacerenza, Cristina Mussini, Enrico Martinelli, Luisa Tavecchia, Lia Crotti, Gianfranco Parati, Roberto Menè, Maurizio Sanarico, Francesco Raimondi, Alessandra Stella, Filippo Biscarini, Tiziana Bachetti, Maria Teresa La Rovere, Maurizio Bussotti, Serena Ludovisi, Katia Capitani, Chiara Gabbi, Simona Dei, Sabrina Ravaglia, Rosangela Artuso, Elena Andreucci, Giulia Gori, Angelica Pagliazzi, Erika Fiorentini, Antonio Perrella, Francesco Bianchi, Paola Bergomi, Emanuele Catena, Riccardo Colombo, Sauro Luchi, Giovanna Morelli, Paola Petrocelli, Sarah Iacopini, Sara Modica, Silvia Baroni, Giulia Micheli, Marco Falcone, Giusy Tiseo, Chiara Barbieri, Tommaso Matucci, Davide Grassi, Claudio Ferri, Franco Marinangeli, Francesco Brancati, Antonella Vincenti, Valentina Borgo, Stefania Lombardi, Mirco Lenzi, Massimo Antonio Di Pietro, Francesca Vichi, Benedetta Romanin, Letizia Attala, Cecilia Costa, Andrea Gabbuti, Marta Colaneri, Patrizia Casprini, Cristoforo Pomara, Massimiliano Esposito, Lucrezia Galasso, Michele Cirianni, Roberto Leoncini, Marco Antonio Bellini, Alessio Bellucci, Naismith JH, Baldwin AJ, Davis BG

المساهمون: Buchanan, Cj, Gaunt, B, Harrison, Pj, Yang, Y, Liu, J, Khan, A, Giltrap, Am, Le Bas, A, Ward, Pn, Gupta, K, Dumoux, M, Tan, Tk, Schimaski, L, Daga, S, Picchiotti, N, Baldassarri, M, Benetti, E, Fallerini, C, Fava, F, Giliberti, A, Koukos, Pi, Davy, Mj, Lakshminarayanan, A, Xue, X, Papadakis, G, Deimel, Lp, Casablancas-Antràs, V, Tdw, Claridge, Amjj, Bonvin, Sattentau, Qj, Furini, S, Gori, M, Huo, J, Owens, Rj, Schaffitzel, C, Berger, I, Renieri, A, Montagnani, Francesca, Tumbarello, Mario, Rancan, Ilaria, Fabbiani, Massimiliano, Bargagli, Elena, Bergantini, Laura, D’Alessandro, Miriana, Cameli, Paolo, Bennett, David, Scolletta, Sabino, Franchi, Federico, Anedda, Federico, Marcantonio, Simona, Mazzei, MARIA ANTONIETTA, Guerrini, Susanna, Conticini, Edoardo, Cantarini, Luca, Frediani, Bruno, Tacconi, Danilo, Chiara Spertilli Raffaelli, Feri, Marco, Donati, Alice, Scala, Raffaele, Guidelli, Luca, Spargi, Genni, Corridi, Marta, Nencioni, Cesira, Croci, Leonardo, Gian Piero Caldarelli, Romani, Davide, Piacentini, Paolo, Bandini, Maria, Desanctis, Elena, Cappelli, Silvia, Canaccini, Anna, Verzuri, Agnese, Anemoli, Valentina, Pisani, Manola, Ognibene, Agostino, Pancrazzi, Alessandro, Lorubbio, Maria, Vaghi, Massimo, Antonella D’Arminio Monforte, Federica Gaia Miraglia, Mondelli, Mario U., Vecchia, Marco, Mantovani, Stefania, Bruno, Raffaele, Maffezzoni, Marcello, Girardis, Massimo, Venturelli, Sophie, Busani, Stefano, Cossarizza, Andrea, Antinori, Andrea, Vergori, Alessandra, Emiliozzi, Arianna, Rusconi, Stefano, Siano, Matteo, Gabrieli, Arianna, Riva, Agostino, Francisci, Daniela, Schiaroli, Elisabetta, Tommasi, Andrea

مصطلحات موضوعية: COVID-19, Cryoelectron Microscopy, Human, SARS-CoV-2, Spike Glycoprotein, Coronaviru, Sugars

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/35737812; info:eu-repo/semantics/altIdentifier/wos/WOS:000830834600030; volume:377; issue:6604; numberofpages:18; journal:SCIENCE; https://hdl.handle.net/11365/1225539

الاتاحة: https://hdl.handle.net/11365/1225539
https://doi.org/10.1126/science.abm3125
https://www.science.org/doi/10.1126/science.abm3125

المؤلفون: Flavia Privitera, Arianna Calonaci, Gabriella Doddato, Filomena Tiziana Papa, Margherita Baldassarri, Anna Maria Pinto, Francesca Mari, Ilaria Longo, Mauro Caini, Daniela Galimberti, Theodora Hadjistilianou, Sonia De Francesco, Alessandra Renieri, Francesca Ariani

المصدر: Genes; Volume 12; Issue 9; Pages: 1318

مصطلحات موضوعية: 13q deletion syndrome, retinoblastoma, array-CGH, intellectual disability, NBEA

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12091318

الاتاحة: https://doi.org/10.3390/genes12091318

المؤلفون: Anna Maria Pinto, Arianna Calonaci, Daniela Galimberti, Alessandra Renieri, Flavia Privitera, Francesca Ariani, Francesca Mari, Gabriella Doddato, Margherita Baldassarri, Ilaria Longo, Sonia De Francesco, Filomena Tiziana Papa, Mauro Caini, Theodora Hadjistilianou

المصدر: Genes
Volume 12
Issue 9
Genes, Vol 12, Iss 1318, p 1318 (2021)

مصطلحات موضوعية: Candidate gene, Chromosome Disorders, Biology, QH426-470, Contiguous gene syndrome, Chromosomes, Article, retinoblastoma, Intellectual disability, medicine, Genetics, Pair 13, 13q deletion syndrome, Array-CGH, NBEA, Retinoblastoma, Chromosomes, Human, Pair 13, Chromosome Deletion, Gene, Genetics (clinical), medicine.disease, Phenotype, intellectual disability, array-CGH, Haploinsufficiency, Human

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b6bd79585ab13f745ff36a7544cf483
http://europepmc.org/articles/PMC8471443

المؤلفون: Anna Maria Pinto, Diego Lopergolo, Roberto Canitano, Flavia Privitera, Judith Armstrong, Gian Paolo Ramelli, Caterina Lo Rizzo, Hilde Van Esch, Gerardo Mejia Baltodano, Alessandra Renieri, Sabrina Mueller, Vittoria Lamacchia, Maria Antonietta Mencarelli, Maria Del Carmen Fons-Estupina, Aurora Currò, Mercè Pineda, Lionel Van Maldergem, Damien Lederer, Candy Kumps, Francesca Ariani, Elisabetta Vaghi, Bert Callewaert, Mercedes Serrano, Giuseppe Castello, Alessandra Ferrarini, Jeroen Breckpot, Francesca Mari

مصطلحات موضوعية: Physics, Theoretical physics, Continuum (measurement), New disease, Spectrum (topology)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::16eb6d1185d442e7b6ad0f3629b780fc
https://doi.org/10.1111/cge.13908/v2/response1

المؤلفون: Anna Maria Pinto, Giuseppe Castello, Lionel Van Maldergem, Caterina Lo Rizzo, Alessandra Ferrarini, Vittoria Lamacchia, Jeroen Breckpot, Candy Kumps, Damien Lederer, Francesca Mari, Alessandra Renieri, Mercè Pineda, Elisabetta Vaghi, Diego Lopergolo, Judith Armstrong, Francesca Ariani, Maria Del Carmen Fons-Estupina, Flavia Privitera, Mercedes Serrano, Sabrina Mueller, Gian Paolo Ramelli, Roberto Canitano, Bert Callewaert, Gerardo Mejia Baltodano, Hilde Van Esch, Maria Antonietta Mencarelli, Aurora Currò

المصدر: CLINICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: 0301 basic medicine, Male, INTELLECTUAL DISABILITY, 030105 genetics & heredity, Bioinformatics, phenotype-genotype, IQSEC2, Rett syndrome, Intellectual disability, Medicine and Health Sciences, Guanine Nucleotide Exchange Factors, Genetics(clinical), intellectual disability, Child, Genetics (clinical), Clinical course, Middle Aged, Phenotype, New disease, Child, Preschool, Phenotype genotype, INACTIVATION, Female, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, PHENOTYPIC VARIABILITY, Diagnosis, Differential, 03 medical and health sciences, Young Adult, Intellectual Disability, Exome Sequencing, Genetics, medicine, Rett Syndrome, Humans, Point Mutation, Genetic Association Studies, LANDSCAPE, MUTATIONS, business.industry, Point mutation, medicine.disease, GENE, 030104 developmental biology, Differential diagnosis, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6043b194fdddb28091b19ffb666ac746
https://pubmed.ncbi.nlm.nih.gov/33368194