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1دورية أكاديمية
المؤلفون: Radio, FC, Pang, KF, Ciolfi, A, Levy, MA, Hernandez-Garcia, A, Pedace, L, Pantaleoni, F, Liu, ZD, de Boer, E, Jackson, A, Bruselles, A, McConkey, H, Stellacci, E, Lo Cicero, S, Motta, M, Carrozzo, R, Dentici, ML, McWalter, K, Desai, M, Monaghan, KG, Telegrafi, A, Philippe, C, Vitobello, A, Au, M, Grand, K, Sanchez-Lara, PA, Baez, J, Lindstrom, K, Kulch, P, Sebastian, J, Madan-Khetarpal, S, Roadhouse, C, MacKenzie, JJ, Monteleone, B, Saunders, CJ, Cuevas, JKJ, Cross, L, Zhou, DH, Hartley, T, Sawyer, SL, Monteiro, FP, Secches, TV, Kok, F, Schultz-Rogers, LE, Macke, EL, Morava, E, Klee, EW, Kemppainen, J, Iascone, M, Selicorni, A, Tenconi, R, Amor, DJ, Pais, L, Gallacher, L, Turnpenny, PD, Stals, K, Ellard, S, Cabet, S, Lesca, G, Pascal, J, Steindl, K, Ravid, S, Weiss, K, Castle, AMR, Carter, MT, Kalsner, L, de Vries, BBA, van Bon, BW, Wevers, MR, Pfundt, R, Stegmann, APA, Kerr, B, Kingston, HM, Chandler, KE, Sheehan, W, Elias, AF, Shinde, DN, Towne, MC, Robin, NH, Goodloe, D, Vanderver, A, Sherbini, O, Bluske, K, Hagelstrom, RT, Zanus, C, Faletra, F, Musante, L, Kurtz-Nelson, EC, Earl, RK, Anderlid, BM, Morin, G, van Slegtenhorst, M, Diderich, KEM, Brooks, AS, Gribnau, J, Boers, RG, Finestra, TR, Carter, LB, Rauch, A, Gasparini, P, Boycott, KM, Barakat, TS, Graham, JM, Faivre, L, Banka, S, Wang, TY, Eichler, EE, Priolo, M, Dallapiccola, B, Vissers, LELM, Sadikovic, B, Scott, DA, Holder, JL, Tartaglia, M
المصدر: American journal of human genetics. 108(3):502-516
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Daniela Cesana, Maria Pia Cicalese, Andrea Calabria, Pietro Merli, Roberta Caruso, Monica Volpin, Laura Rudilosso, Maddalena Migliavacca, Federica Barzaghi, Claudia Fossati, Francesco Gazzo, Simone Pizzi, Andrea Ciolfi, Alessandro Bruselles, Francesca Tucci, Giulio Spinozzi, Giulia Pais, Fabrizio Benedicenti, Matteo Barcella, Ivan Merelli, Pierangela Gallina, Stefania Giannelli, Francesca Dionisio, Serena Scala, Miriam Casiraghi, Luisa Strocchio, Luciana Vinti, Lucia Pacillo, Eleonora Draghi, Marcella Cesana, Sara Riccardo, Chiara Colantuono, Emmanuelle Six, Marina Cavazzana, Filippo Carlucci, Manfred Schmidt, Caterina Cancrini, Fabio Ciceri, Luca Vago, Davide Cacchiarelli, Bernhard Gentner, Luigi Naldini, Marco Tartaglia, Eugenio Montini, Franco Locatelli, Alessandro Aiuti
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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3دورية أكاديمية
المؤلفون: Giulia Fasano, Valentina Muto, Francesca Clementina Radio, Martina Venditti, Niloufar Mosaddeghzadeh, Simona Coppola, Graziamaria Paradisi, Erika Zara, Farhad Bazgir, Alban Ziegler, Giovanni Chillemi, Lucia Bertuccini, Antonella Tinari, Annalisa Vetro, Francesca Pantaleoni, Simone Pizzi, Libenzio Adrian Conti, Stefania Petrini, Alessandro Bruselles, Ingrid Guarnetti Prandi, Cecilia Mancini, Balasubramanian Chandramouli, Magalie Barth, Céline Bris, Donatella Milani, Angelo Selicorni, Marina Macchiaiolo, Michaela V. Gonfiantini, Andrea Bartuli, Riccardo Mariani, Cynthia J. Curry, Renzo Guerrini, Anne Slavotinek, Maria Iascone, Bruno Dallapiccola, Mohammad Reza Ahmadian, Antonella Lauri, Marco Tartaglia
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-29 (2022)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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4دورية أكاديمية
المؤلفون: Giovenino, Chiara, Trajkova, Slavica, Pavinato, Lisa, Cardaropoli, Simona, Pullano, Verdiana, Ferrero, Enza, Sukarova-Angelovska, Elena, Carestiato, Silvia, Salmin, Paola, Rinninella, Antonina, Battaglia, Anthony, Bertoli, Luca, Fadda, Antonio, Palermo, Flavia, Carli, Diana, Mussa, Alessandro, Dimartino, Paola, Bruselles, Alessandro, Froukh, Tawfiq, Mandrile, Giorgia, Pasini, Barbara, De Rubeis, Silvia, Buxbaum, Joseph D, Pippucci, Tommaso, Tartaglia, Marco, Rossato, Marzia, Delledonne, Massimo, Ferrero, Giovanni Battista, Brusco, Alfredo
المساهمون: Giovenino, Chiara, Trajkova, Slavica, Pavinato, Lisa, Cardaropoli, Simona, Pullano, Verdiana, Ferrero, Enza, Sukarova-Angelovska, Elena, Carestiato, Silvia, Salmin, Paola, Rinninella, Antonina, Battaglia, Anthony, Bertoli, Luca, Fadda, Antonio, Palermo, Flavia, Carli, Diana, Mussa, Alessandro, Dimartino, Paola, Bruselles, Alessandro, Froukh, Tawfiq, Mandrile, Giorgia, Pasini, Barbara, De Rubeis, Silvia, Buxbaum, Joseph D, Pippucci, Tommaso, Tartaglia, Marco, Rossato, Marzia, Delledonne, Massimo, Ferrero, Giovanni Battista, Brusco, Alfredo
مصطلحات موضوعية: neurodevelopmental disorde, X skewed inactivation, X linked disorders, exome, Xdrop long-DNA technology
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36879111; info:eu-repo/semantics/altIdentifier/wos/WOS:000944081800001; firstpage:1; lastpage:9; numberofpages:9; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/2318/1903052Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85149409681; https://www.nature.com/articles/s41431-023-01324-wTest
الإتاحة: https://doi.org/10.1038/s41431-023-01324-wTest
https://hdl.handle.net/2318/1903052Test
https://www.nature.com/articles/s41431-023-01324-wTest -
5دورية أكاديمية
المؤلفون: L. Pavinato, J. Stanic, M. Barzasi, A. Gurgone, G. Chiantia, V. Cipriani, I. Eberini, L. Palazzolo, M. DiLuca, A. Costa, A. Marcantoni, E. Biamino, M. Spada, S. M. Hiatt, W. V. Kelley, L. Vestito, S. M. Sisodiya, Genomics England Research Consortium, S. Efthymiou, P. Chand, R. Kaiyrzhanov, A. Bruselles, S. Cardaropoli, M. Tartaglia, S. De Rubeis, J. D. Buxbaum, D. Smedley, G. B. Ferrero, M. Giustetto, F. Gardoni, A. Brusco
المساهمون: L. Pavinato, J. Stanic, M. Barzasi, A. Gurgone, G. Chiantia, V. Cipriani, I. Eberini, L. Palazzolo, M. Diluca, A. Costa, A. Marcantoni, E. Biamino, M. Spada, S.M. Hiatt, W.V. Kelley, L. Vestito, S.M. Sisodiya, G. England Research Consortium, S. Efthymiou, P. Chand, R. Kaiyrzhanov, A. Bruselle, S. Cardaropoli, M. Tartaglia, S. De Rubei, J.D. Buxbaum, D. Smedley, G.B. Ferrero, M. Giustetto, F. Gardoni, A. Brusco
مصطلحات موضوعية: Epilepsy, Excitatory synapse, Neurodevelopmental disorder, Rabphilin, RPH3A, Settore BIO/14 - Farmacologia, Settore BIO/10 - Biochimica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37403762; info:eu-repo/semantics/altIdentifier/wos/WOS:001069872000001; volume:25; issue:11; firstpage:1; lastpage:14; numberofpages:14; journal:GENETICS IN MEDICINE; https://hdl.handle.net/2434/1026641Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85169889301
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6دورية أكاديمية
المؤلفون: Pavinato, Lisa, Stanic, Jennifer, Barzasi, Marta, Gurgone, Antonia, Chiantia, Giuseppe, Cipriani, Valentina, Eberini, Ivano, Palazzolo, Luca, Di Luca, Monica, Costa, Alex, Marcantoni, Andrea, Biamino, Elisa, Spada, Marco, Hiatt, Susan M, Kelley, Whitley V, Vestito, Letizia, Sisodiya, Sanjay M, Genomics England Research Consortium, ., Efthymiou, Stephanie, Chand, Prem, Kaiyrzhanov, Rauan, Bruselles, Alessandro, Cardaropoli, Simona, Tartaglia, Marco, De Rubeis, Silvia, Buxbaum, Joseph D, Smedley, Damian, Ferrero, Giovanni Battista, Giustetto, Maurizio, Gardoni, Fabrizio, Brusco, Alfredo
المصدر: Genetics in Medicine , 25 (11) , Article 100922. (2023)
مصطلحات موضوعية: RPH3A, epilepsy, excitatory synapse, neurodevelopmental disorder, rabphilin
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10173344/1/Sisodiya_Missence_Variants_1-s2.0-S1098360023009358-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10173344Test/
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7دورية أكاديمية
المؤلفون: Bucalo, Agostino, Conti, Giulia, Valentini, Virginia, Capalbo, Carlo, Bruselles, Alessandro, Tartaglia, Marco, Bonanni, Bernardo, Calistri, Daniele, Coppa, Anna, Cortesi, Laura, Giannini, Giuseppe, Gismondi, Viviana, Manoukian, Siranoush, Manzella, Livia, Montagna, Marco, Peterlongo, Paolo, Radice, Paolo, Russo, Antonio, Tibiletti, Maria Grazia, Turchetti, Daniela, Viel, Alessandra, Zanna, Ines, Palli, Domenico, Silvestri, Valentina, Ottini, Laura
المساهمون: Ministero dell’Istruzione, dell’Università e della Ricerca, Sapienza Università di Roma, Istituto Pasteur-Fondazione Cenci Bolognetti, Fondazione Umberto Veronesi, Fondazione Italiana per la Ricerca sul Cancro, Associazione Italiana per la Ricerca sul Cancro
المصدر: European Journal of Cancer ; volume 188, page 183-191 ; ISSN 0959-8049
مصطلحات موضوعية: Cancer Research, Oncology
الإتاحة: https://doi.org/10.1016/j.ejca.2023.04.022Test
https://api.elsevier.com/content/article/PII:S0959804923002228?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0959804923002228?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Motta, Marialetizia, Barresi, Sabina, Pizzi, Simone, Bifano, Delfina, Lopez Marti, Jennifer, Garrido‐Pontnou, Marta, Flex, Elisabetta, Bruselles, Alessandro, Giovannoni, Isabella, Rotundo, Giovannina, Fragale, Alessandra, Tirelli, Valentina, Vallese, Silvia, Ciolfi, Andrea, Bisogno, Gianni, Alaggio, Rita, Tartaglia, Marco
المصدر: Journal of Pathology; Jun2024, Vol. 263 Issue 2, p166-177, 12p
مصطلحات موضوعية: GENE fusion, CHIMERIC proteins, GENE rearrangement, HYPERACTIVITY, CATALYTIC domains, RECURRENT miscarriage
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9دورية أكاديمية
المؤلفون: Cesana D., Cicalese M. P., Calabria A., Merli P., Caruso R., Volpin M., Rudilosso L., Migliavacca M., Barzaghi F., Fossati C., Gazzo F., Pizzi S., Ciolfi A., Bruselles A., Tucci F., Spinozzi G., Pais G., Benedicenti F., Barcella M., Merelli I., Gallina P., Giannelli S., Dionisio F., Scala S., Casiraghi M., Strocchio L., Vinti L., Pacillo L., Draghi E., Cesana M., Riccardo S., Colantuono C., Six E., Cavazzana M., Carlucci F., Schmidt M., Cancrini C., Ciceri F., Vago L., Cacchiarelli D., Gentner B., Naldini L., Tartaglia M., Montini E., Locatelli F., Aiuti A.
المساهمون: Cesana, D., Cicalese, M. P., Calabria, A., Merli, P., Caruso, R., Volpin, M., Rudilosso, L., Migliavacca, M., Barzaghi, F., Fossati, C., Gazzo, F., Pizzi, S., Ciolfi, A., Bruselles, A., Tucci, F., Spinozzi, G., Pais, G., Benedicenti, F., Barcella, M., Merelli, I., Gallina, P., Giannelli, S., Dionisio, F., Scala, S., Casiraghi, M., Strocchio, L., Vinti, L., Pacillo, L., Draghi, E., Cesana, M., Riccardo, S., Colantuono, C., Six, E., Cavazzana, M., Carlucci, F., Schmidt, M., Cancrini, C., Ciceri, F., Vago, L., Cacchiarelli, D., Gentner, B., Naldini, L., Tartaglia, M., Montini, E., Locatelli, F., Aiuti, A.
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:001225889400001; volume:15; issue:1; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/20.500.11768/164977Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85191718365
الإتاحة: https://doi.org/20.500.11768/16497710.1038/s41467-024-47866-5Test
https://hdl.handle.net/20.500.11768/164977Test -
10دورية أكاديمية
المؤلفون: Pavinato L., Villamor-Paya M., Sanchiz-Calvo M., Andreoli C., Gay M., Vilaseca M., Arauz-Garofalo G., Ciolfi A., Bruselles A., Pippucci T., Prota V., Carli D., Giorgio E., Radio F. C., Antona V., Giuffre M., Ranguin K., Colson C., De Rubeis S., Dimartino P., Buxbaum J. D., Ferrero G. B., Tartaglia M., Martinelli S., Stracker T. H., Brusco A.
المساهمون: Pavinato L., Villamor-Paya M., Sanchiz-Calvo M., Andreoli C., Gay M., Vilaseca M., Arauz-Garofalo G., Ciolfi A., Bruselles A., Pippucci T., Prota V., Carli D., Giorgio E., Radio F.C., Antona V., Giuffre M., Ranguin K., Colson C., De Rubeis S., Dimartino P., Buxbaum J.D., Ferrero G.B., Tartaglia M., Martinelli S., Stracker T.H., Brusco A.
مصطلحات موضوعية: genetic research, genetic, loss of function mutation, medical, missense, molecular biology, mutation
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33323470; volume:59; issue:2; firstpage:170; lastpage:179; numberofpages:10; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/2318/1768158Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097999119; https://jmg.bmj.com/content/59/2/170.longTest
الإتاحة: https://doi.org/10.1136/jmedgenet-2020-107281Test
http://hdl.handle.net/2318/1768158Test
https://jmg.bmj.com/content/59/2/170.longTest
النص الكامل