المؤلفون: Masotto, Giordana

المصدر: DUODA: estudis de la diferència sexual; 2019: Núm.: 56; p. 46-51

وصف الملف: application/pdf

العلاقة: https://www.raco.cat/index.php/DUODA/article/view/354544/446534Test

الوصول الحر: https://www.raco.cat/index.php/DUODA/article/view/354544Test

المؤلفون: Arti Ahuwalia, Claudio Bernardi, Giuseppe Biagini, Simona Bussi, Francesca Caloni., Laura Calvillo, Isabella De Angelis, Emma Di Consiglio, Lucia Galvagni, Manuela Marcoli, Illaria Masotto, Paola Nicolussi, Maria Vittoria Varoni, Augusto Vitale

المساهمون: Rodolfo Nello Lorenzini, Ahuwalia, Arti, Bernardi, Claudio, Biagini, Giuseppe, Bussi, Simona, Caloni., Francesca, Calvillo, Laura, De Angelis, Isabella, Di Consiglio, Emma, Galvagni, Lucia, Marcoli, Manuela, Masotto, Illaria, Nicolussi, Paola, Vittoria Varoni, Maria, Vitale, Augusto

العلاقة: info:eu-repo/semantics/altIdentifier/isbn/978-88-947892-0-1; ispartofbook:Piattaforma OPBA. Documenti di consenso, linee guida, questionari, elaborati dalle rappresentanze nazionali degli Organismi Preposti al Benessere degli Animali; firstpage:137; lastpage:182; alleditors:Rodolfo Nello Lorenzini; https://hdl.handle.net/11380/1329806Test

الإتاحة: https://hdl.handle.net/11380/1329806Test

المؤلفون: Valeria Barresi, Antonello Cardoni, Evelina Miele, Lucia Pedace, Barbara Masotto, Claudia Nardini, Sabina Barresi, Sabrina Rossi

المصدر: Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-7 (2024)

مصطلحات موضوعية: CNS tumor, BCOR, BCORL1, CREBBP, Fusion, Ependymoma, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2051-5960Test

الوصول الحر: https://doaj.org/article/a146378fe4204cd8b54ed7a8eb6ec363Test

المؤلفون: Ha, Thoa, Morgan, Angela, Bartos, Meghan, Beatty, Katelyn, Cogné, Benjamin, Braun, Dominique, Masotto, Barbara

المساهمون: Institut Català de la Salut, Ha T Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, USA. Morgan A Murdoch Children's Research Institute, Parkville, Victoria, Australia. University of Melbourne, Parkville, Victoria, Australia. Royal Children's Hospital, Parkville, Victoria, Australia. Bartos MN Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA. Beatty K Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA. Cogné B CHU Nantes, Service de Génétique Médicale, L'institut du Thorax, University Nantes, Nantes, France. Braun D Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland. Masotto B Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Fenotip, Trastorns del llenguatge, Malalties congènites, Anomalies cromosòmiques, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Allelic Imbalance::Loss of Heterozygosity::Haploinsufficiency, DISEASES::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Neurobehavioral Manifestations::Communication Disorders::Language Disorders::Language Development Disorders, PHENOMENA AND PROCESSES::Genetic Phenomena::Genotype::Genetic Predisposition to Disease, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::desequilibrio alélico::pérdida de heterocigosidad::haploinsuficiencia, ENFERMEDADES::afecciones patológicas, signos y síntomas::signos y síntomas::manifestaciones neurológicas::manifestaciones neuroconductuales::trastornos de la comunicación::trastornos del lenguaje::trastornos del desarrollo del lenguaje, FENÓMENOS Y PROCESOS::fenómenos genéticos::genotipo::predisposición genética a la enfermedad, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo

وصف الملف: application/pdf

العلاقة: American Journal of Medical Genetics Part A;194(7); https://doi.org/10.1002/ajmg.a.63559Test; Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, et al. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. Am J Med Genet Part A. 2024 Jul;194(7):e63559.; https://hdl.handle.net/11351/11574Test; 001183455200001

الإتاحة: https://doi.org/10.1002/ajmg.a.63559Test
https://hdl.handle.net/11351/11574Test

المؤلفون: Marastoni, Elena, Ammendola, Serena, Rossi, Sabrina, Giovannoni, Isabella, Broggi, Giuseppe, Masotto, Barbara, Feletti, Alberto, Barresi, Valeria

المساهمون: Marastoni, Elena, Ammendola, Serena, Rossi, Sabrina, Giovannoni, Isabella, Broggi, Giuseppe, Masotto, Barbara, Feletti, Alberto, Barresi, Valeria

مصطلحات موضوعية: H3 K27-altered diffuse glioma, H3 K27me3, H3F3A, Rosette-forming glioneuronal tumor

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38233563; info:eu-repo/semantics/altIdentifier/wos/WOS:001144081400001; volume:First published online: 17 January 2024; firstpage:1; lastpage:9; numberofpages:9; journal:VIRCHOWS ARCHIV; https://hdl.handle.net/11562/1117489Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85182423515; https://doi.org/10.1007/s00428-024-03739-2Test

الإتاحة: https://doi.org/10.1007/s00428-024-03739-2Test
https://hdl.handle.net/11562/1117489Test

المؤلفون: Gu, Keren, Masotto, Xander, Bachani, Vandana, Lakshminarayanan, Balaji, Nikodem, Jack, Yin, Dong

مصطلحات موضوعية: Computer Science - Machine Learning, Computer Science - Human-Computer Interaction

الوصول الحر: http://arxiv.org/abs/2107.11413Test

المؤلفون: Giannini, Edoardo G., Pasta, Andrea, Pieri, Giulia, Plaz Torres, Maria Corina, Marseglia, Mariarosaria, Pelizzaro, Filippo, Sangiovanni, Angelo, Cabibbo, Giuseppe, Ghittoni, Giorgia, Di Marco, Mariella, Foschi, Francesco Giuseppe, Guarino, Maria, Biasini, Elisabetta, Saitta, Carlo, Campani, Claudia, Svegliati‐Baroni, Gianluca, Gasbarrini, Antonio, Brunetto, Maurizia Rossana, Magalotti, Donatella, Azzaroli, Francesco, Mega, Andrea, Sacco, Rodolfo, Nardone, Gerardo, Sacerdoti, David, Masotto, Alberto, Vidili, Gianpaolo, Bucci, Laura, Vitale, Alessandro, Trevisani, Franco

المصدر: Liver International ; volume 44, issue 7, page 1588-1599 ; ISSN 1478-3223 1478-3231

الإتاحة: https://doi.org/10.1111/liv.15855Test

المؤلفون: Barresi, Valeria, Cardoni, Antonello, Miele, Evelina, Pedace, Lucia, Masotto, Barbara, Nardini, Claudia, Barresi, Sabina, Rossi, Sabrina

المساهمون: Ministero dell’Istruzione, dell’Università e della Ricerca

المصدر: Acta Neuropathologica Communications ; volume 12, issue 1 ; ISSN 2051-5960

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Neurology (clinical), Pathology and Forensic Medicine

الإتاحة: https://doi.org/10.1186/s40478-024-01726-xTest

المؤلفون: Bergantini, L., Spalletti, M., d'Alessandro, M., Genovese, M., Masotto, E., Cameli, P., Prasse, A., Bargagli, E.

المساهمون: Università degli Studi di Siena

المصدر: Pulmonology ; ISSN 2531-0437

مصطلحات موضوعية: Pulmonary and Respiratory Medicine

الإتاحة: https://doi.org/10.1016/j.pulmoe.2023.11.009Test
https://api.elsevier.com/content/article/PII:S2531043723002374?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2531043723002374?httpAccept=text/plainTest

المؤلفون: Nicola Reggidori, Laura Bucci, Valentina Santi, Benedetta Stefanini, Lorenzo Lani, Davide Rampoldi, Giorgia Ghittoni, Fabio Farinati, Alberto Masotto, Bernardo Stefanini, Andrea Mega, Elisabetta Biasini, Francesco Giuseppe Foschi, Gianluca Svegliati-Baroni, Angelo Sangiovanni, Claudia Campani, Giovanni Raimondo, Gianpaolo Vidili, Antonio Gasbarrini, Ciro Celsa, Mariella Di Marco, Edoardo G. Giannini, Rodolfo Sacco, Maurizia Rossana Brunetto, Francesco Azzaroli, Donatella Magalotti, Filomena Morisco, Gian Ludovico Rapaccini, Gerardo Nardone, Alessandro Vitale, Franco Trevisani, Maurizio Biselli, Paolo Caraceni, Annagiulia Gramenzi, Francesca Benevento, Alessandro Granito, Luca Muratori, Fabio Piscaglia, Francesco Tovoli, Gloria Allegrini, Calogero Cammà, Giuseppe Cabibbo, Carmelo Marco Giacchetto, Paolo Giuffrida, Maria Vittoria Grassini, Mauro Grova, Gabriele Rancatore, Caterina Stornello, Valentina Adotti, Tancredi Li Cavoli, Fabio Marra, Martina Rosi, Vittoria Bevilacqua, Alberto Borghi, Lucia Napoli, Fabio Conti, G.L. Frassineti, Maria Teresa Migliano, Nicoletta de Matthaeis, Francesca Romana Ponziani, Gabriele Missale, Andrea Olivani, Mario Capasso, Valentina Cossiga, Maria Guarino, Ester Marina Cela, Antonio Facciorusso, Camilla Graziosi, Valentina Lauria, Giorgio Pelecca, Marta Schirripa, Fabrizio Chegai, Armando Raso, Alessio Bozzi, Maria Stella Franzè, Carlo Saitta, Assunta Sauchella, Elton Dajti, Federico Ravaioli, Maria Corina Plaz Torres, Giulia Pieri, Filippo Oliveri, Gabriele Ricco, Veronica Romagnoli, Alessandro Inno, Fabiana Marchetti, Pietro Coccoli, Antonio Malerba, Alberta Cappelli, Rita Golfieri, Cristina Mosconi, Matteo Renzulli

المصدر: JHEP Reports, Vol 5, Iss 8, Pp 100784- (2023)

مصطلحات موضوعية: Hepatocellular carcinoma, Alcohol abuse, ITA.LI.CA staging system, Metabolic dysfunction-associated fatty liver disease, Surveillance programs, Oesophageal varices, Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2589555923001155Test; https://doaj.org/toc/2589-5559Test

الوصول الحر: https://doaj.org/article/994809fcb7eb4d6c91173f05293807e2Test