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1دورية أكاديمية
المؤلفون: Koza, SA, Tabet, AC, Bonaglia, MC, Andres, S, Anderlid, BM, Aten, E, Stiefsohn, D, Evans, DG, van Ravenswaaij-Arts, CMA, Kant, SG
المصدر: European journal of medical genetics. 66(7):104773
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Bonaglia, MC, Giorda, R, Mani, E, Aceti, G, Anderlid, BM, Baroncini, A, Pramparo, T, Zuffardi, O
المصدر: Journal of medical genetics. 43(10):822-828
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Bustamante AP, Castro A, Radi O, Camerino G, BRUSCO, Alfredo, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O.
المساهمون: Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Bustamante AP, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O
مصطلحات موضوعية: sex reversal, XX male, sox3, sox9
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25351776; info:eu-repo/semantics/altIdentifier/wos/WOS:000358006100009; volume:23; issue:8; firstpage:1025; lastpage:1032; numberofpages:8; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2318/1509053Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84937526184; http://www.nature.com/ejhg/journal/vaop/ncurrent/full/ejhg2014237a.htmlTest
الإتاحة: https://doi.org/10.1038/ejhg.2014.237Test
http://hdl.handle.net/2318/1509053Test
http://www.nature.com/ejhg/journal/vaop/ncurrent/full/ejhg2014237a.htmlTest -
4دورية أكاديمية
المؤلفون: Bonaglia, MC, Giorda, R, Beri, S, De Agostini, C, Novara, F, Fichera, M, Grillo, L, Galesi, O, Vetro, A, Ciccone, R, Bonati, MT, Giglio, S, Guerrini, R, Osimani, S, Marelli, S, Zucca, C, Grasso, R, Borgatti, R, Mani, E, Motta, C, Molteni, M, Romano, C, Greco, D, Reitano, S, Baroncini, A, Lapi, E, Cecconi, A, Arrigo, G, Patricelli, MG, Pantaleoni, C, D'Arrigo, S, Riva, D, Sciacca, F, Dalla Bernardina, B, Zoccante, L, Darra, F, Termine, C, Maserati, E, Bigoni, S, Priolo, E, Bottani, A, Gimelli, S, Bena, F, Brusco, A, di Gregorio, E, Bagnasco, I, Giussani, U, Nitsch, L, Politi, P, Martinez-Frias, ML, Martinez-Fernandez, ML, Guardia, NM, Bremer, A, Anderlid, BM, Zuffardi, O
المصدر: PLoS genetics. 7(7):e1002173
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: KURTAS, EDIBE NEHIR, Arrigoni F, Errichiello E, Zucca C, Maghini C, D'Angelo MG, Beri S, Giorda R, Bertuzzo S, Delledonne M, Xumerle L, Rossato M, Zuffardi O, Bonaglia MC
المساهمون: Kurtas, EDIBE NEHIR, Arrigoni, F, Errichiello, E, Zucca, C, Maghini, C, D'Angelo, Mg, Beri, S, Giorda, R, Bertuzzo, S, Delledonne, M, Xumerle, L, Rossato, M, Zuffardi, O, Bonaglia, Mc
مصطلحات موضوعية: SHANK3, NFAM1, TCF20, polymicrogyria, topologically associating domains
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29378768; info:eu-repo/semantics/altIdentifier/wos/WOS:000428919900008; volume:55; issue:4; firstpage:269; lastpage:277; numberofpages:9; journal:JOURNAL OF MEDICAL GENETICS; https://hdl.handle.net/11571/1217950Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85044829448; https://jmg.bmj.com/content/55/4/269.longTest
الإتاحة: https://doi.org/10.1136/jmedgenet-2017-105125Test
https://hdl.handle.net/11571/1217950Test
https://jmg.bmj.com/content/55/4/269.longTest -
6دورية أكاديمية
المؤلفون: Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Bustamante AP, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O., GRAMMATICO, Paola
المساهمون: Vetro, A, Dehghani, Mr, Kraoua, L, Giorda, R, Beri, S, Cardarelli, L, Merico, M, Manolakos, E, Bustamante, Ap, Castro, A, Radi, O, Camerino, G, Brusco, A, Sabaghian, M, Sofocleous, C, Forzano, F, Palumbo, P, Palumbo, O, Calvano, S, Zelante, L, Grammatico, Paola, Giglio, S, Basly, M, Chaabouni, M, Carella, M, Russo, G, Bonaglia, Mc, Zuffardi, O.
مصطلحات موضوعية: Testis development, SOX9, SOX3
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25351776; info:eu-repo/semantics/altIdentifier/wos/WOS:000358006100009; firstpage:1; lastpage:8; numberofpages:8; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11573/617462Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84937526184
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7
المؤلفون: Raviglione, F, Douzgou, S, Scala, M, Mingarelli, A, D'Arrigo, Stefano, Freri, Elena, Darra ,F, Giglio, S, Bonaglia, MC, Pantaleoni, Chiara, Mastrangelo, M, Epifanio, R, Elia, M, Saletti, Veronica, Morlino, Sara, De Liso, P, Pavaine, J, Spaccini, L, Cattaneo, E, Gardella, E, Møller, RS, Marchese, F, Colonna, C, Gandioli, C, Gobbi, G, Ram, D, Palumbo, O, Carella, M, Germano, M, Tonduti, D, De Angelis, D, Caputo, D, Bergonzini, P, Novara, F, Zuffardi, O, Verrotti, A, Orsini, A, Bonuccelli, A, De Muto, MC, Trivisano, M, Vigevano, F, Granata, Tiziana, Bernardina, BD, Tranchina, A, Striano, P
العلاقة: https://zenodo.org/communities/bestaTest; https://zenodo.org/record/6200696Test; https://doi.org/10.5281/zenodo.6200696Test; oai:zenodo.org:6200696
الإتاحة: https://doi.org/10.5281/zenodo.6200696Test
https://doi.org/10.1016/j.seizure.2021.03.025Test
https://doi.org/10.5281/zenodo.6200695Test
https://zenodo.org/record/6200696Test -
8دورية أكاديمية
المؤلفون: Rossi E, Giorda R, Bonaglia MC, Candia SD, Grechi E, Franzese A, Soli F, Rivieri F, Patricelli MG, Saccilotto D, Bonfante A, GIGLIO, SABRINA RITA, Beri S, Rocchi M, Zuffardi O.
المساهمون: Rossi, E, Giorda, R, Bonaglia, Mc, Candia, Sd, Grechi, E, Franzese, A, Soli, F, Rivieri, F, Patricelli, Mg, Saccilotto, D, Bonfante, A, Giglio, SABRINA RITA, Beri, S, Rocchi, M, Zuffardi, O.
مصطلحات موضوعية: 15q11-q13 region, Unbalanced Translocation, Prader-Willi and Angelman Syndrome, Inv dup(15)
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22720067; info:eu-repo/semantics/altIdentifier/wos/WOS:000305347800052; numberofpages:8; journal:PLOS ONE; http://hdl.handle.net/11584/297659Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84862262236
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9دورية أكاديمية
المؤلفون: Giorda R, Beri S, Bonaglia MC, Spaccini L, Scelsa B, Manolakos E, DELLA MINA, ERIKA, CICCONE, ROBERTO, ZUFFARDI, ORSETTA
المساهمون: Giorda, R, Beri, S, Bonaglia, Mc, Spaccini, L, Scelsa, B, Manolakos, E, DELLA MINA, Erika, Ciccone, Roberto, Zuffardi, Orsetta
مصطلحات موضوعية: chromosomal triplication, segmental duplication, paralogous genes, VCX, TCEB3
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21965167; info:eu-repo/semantics/altIdentifier/wos/WOS:000297199700011; volume:155; issue:11; firstpage:2681; lastpage:2687; numberofpages:7; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11571/308505Test; info:eu-repo/semantics/altIdentifier/scopus/eid=2-s2.0-80054915899
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10دورية أكاديمية
المؤلفون: Broli M, Bisulli F, Mastrangelo M, Fontana E, Fiocchi I, Zucca C, Bonaglia MC, Buono S, Musumeci SA, Romano C, Reitano S, Savio M, Vitello GA, Bernardi B, Cevolani D, Agati R, Poda R, Gallassi R, Giorda R, Bernardina BD, Seri M, Tinuper P., ZUFFARDI, ORSETTA
المساهمون: Broli, M, Bisulli, F, Mastrangelo, M, Fontana, E, Fiocchi, I, Zucca, C, Bonaglia, Mc, Buono, S, Musumeci, Sa, Romano, C, Reitano, S, Savio, M, Vitello, Ga, Bernardi, B, Cevolani, D, Agati, R, Poda, R, Gallassi, R, Giorda, R, Zuffardi, Orsetta, Bernardina, Bd, Seri, M, Tinuper, P.
مصطلحات موضوعية: Xp11.22-11.23, mental retardation, speech impairment
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21926047; info:eu-repo/semantics/altIdentifier/wos/WOS:000296567000002; volume:13; issue:3; firstpage:240; lastpage:251; numberofpages:12; journal:EPILEPTIC DISORDERS; http://hdl.handle.net/11571/306106Test; info:eu-repo/semantics/altIdentifier/scopus/eid=2-s2.0-84856398978
النص الكامل