المؤلفون: Romani, Marta

مرشدي الرسالة: Romani, Marta, Albertoni, Giuseppe

مصطلحات موضوعية: Adelheid of Burgundy - 10th century - Ottonian dynasty - social network analysis, Settore M-STO/01 - Storia Medievale

العلاقة: firstpage:1; lastpage:238; numberofpages:238

الإتاحة: http://hdl.handle.net/11572/305431Test

المؤلفون: Nuovo, Sara, Fuiano, Laura, Micalizzi, Alessia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Caridi, Gianluca, D'Arrigo, Stefano, Fazzi, Elisa, Fischetto, Rita, Ghiggeri, Gian Marco, Giordano, Lucio, Leuzzi, Vincenzo, Romaniello, Romina, Signorini, Sabrina, Stringini, Gilda, Zanni, Ginevra, Romani, Marta, Valente, Enza Maria, Emma, Francesco

المساهمون: Nuovo, Sara, Fuiano, Laura, Micalizzi, Alessia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Caridi, Gianluca, D'Arrigo, Stefano, Fazzi, Elisa, Fischetto, Rita, Ghiggeri, Gian Marco, Giordano, Lucio, Leuzzi, Vincenzo, Romaniello, Romina, Signorini, Sabrina, Stringini, Gilda, Zanni, Ginevra, Romani, Marta, Valente, Enza Maria, Emma, Francesco

مصطلحات موضوعية: 1-deamino-8D-arginine vasopressin testearly diagnosisJoubert syndromenephronophthisisurine osmolality

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30403813; info:eu-repo/semantics/altIdentifier/wos/WOS:000593117800016; volume:35; issue:7; firstpage:1195; lastpage:1202; numberofpages:8; journal:NEPHROLOGY DIALYSIS TRANSPLANTATION; https://hdl.handle.net/11568/1018724Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074993028; https://academic.oup.com/ndt/article/35/7/1195/5162973Test

الإتاحة: https://doi.org/10.1093/ndt/gfy333Test
https://hdl.handle.net/11568/1018724Test
https://academic.oup.com/ndt/article/35/7/1195/5162973Test

المؤلفون: Nuovo, Sara, Fuiano, Laura, Micalizzi, Alessia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Caridi, Gianluca, D'Arrigo, Stefano, Fazzi, Elisa, Fischetto, Rita, Ghiggeri, Gian Marco, Giordano, Lucio, Leuzzi, Vincenzo, Romaniello, Romina, Signorini, Sabrina, Stringini, Gilda, Zanni, Ginevra, Romani, Marta, Valente, Enza Maria, Emma, Francesco

المساهمون: Nuovo, Sara, Fuiano, Laura, Micalizzi, Alessia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Caridi, Gianluca, D'Arrigo, Stefano, Fazzi, Elisa, Fischetto, Rita, Ghiggeri, Gian Marco, Giordano, Lucio, Leuzzi, Vincenzo, Romaniello, Romina, Signorini, Sabrina, Stringini, Gilda, Zanni, Ginevra, Romani, Marta, Valente, Enza Maria, Emma, Francesco

مصطلحات موضوعية: Joubert syndrome, juvenile nephronophthisi, chronic kidney disease, inherited ciliopathies

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30403813; info:eu-repo/semantics/altIdentifier/wos/WOS:000593117800016; journal:NEPHROLOGY DIALYSIS TRANSPLANTATION; http://hdl.handle.net/11573/1298771Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074993028

الإتاحة: https://doi.org/10.1093/ndt/gfy333Test
http://hdl.handle.net/11573/1298771Test

المؤلفون: Micalizzi, Alessia, Poretti, Andrea, Romani, Marta, Ginevrino, Monia, Mazza, Tommaso, Aiello, Chiara, Zanni, Ginevra, Baumgartner, Bastian, Borgatti, Renato, Brockmann, Knut, Camacho, Ana, Cantalupo, Gaetano, Haeusler, Martin, Hikel, Christiane, Klein, Andrea, Mandrile, Giorgia, Mercuri, Eugenio, Rating, Dietz, Romaniello, Romina, Santorelli, Filippo Maria, Schimmel, Mareike, Spaccini, Luigina, Teber, Serap, von Moers, Arpad, Wente, Sarah, Ziegler, Andreas, Zonta, Andrea, Bertini, Enrico, Boltshauser, Eugen, Valente, Enza Maria

المساهمون: Micalizzi, Alessia, Poretti, Andrea, Romani, Marta, Ginevrino, Monia, Mazza, Tommaso, Aiello, Chiara, Zanni, Ginevra, Baumgartner, Bastian, Borgatti, Renato, Brockmann, Knut, Camacho, Ana, Cantalupo, Gaetano, Haeusler, Martin, Hikel, Christiane, Klein, Andrea, Mandrile, Giorgia, Mercuri, Eugenio, Rating, Dietz, Romaniello, Romina, Santorelli, Filippo Maria, Schimmel, Mareike, Spaccini, Luigina, Teber, Serap, von Moers, Arpad, Wente, Sarah, Ziegler, Andreas, Zonta, Andrea, Bertini, Enrico, Boltshauser, Eugen, Valente, Enza Maria

العلاقة: https://resolver.sub.uni-goettingen.de/purl?gro-2/39707Test; 000382310600005

الإتاحة: https://doi.org/10.1038/ejhg.2016.19Test
https://resolver.sub.uni-goettingen.de/purl?gro-2/39707Test

المؤلفون: De Mori, Roberta, Romani, Marta, D'Arrigo, Stefano, Zaki, Maha S, Lorefice, Elisa, Tardivo, Silvia, Biagini, Tommaso, Stanley, Valentina, Musaev, Damir, Fluss, Joel Victor, Micalizzi, Alessia, Nuovo, Sara, Illi, Barbara, Chiapparini, Luisa, Di Marcotullio, Lucia, Issa, Mahmoud Y, Anello, Danila, Casella, Antonella, Ginevrino, Monia, Leggins, Autumn Sa'na, Roosing, Susanne, Alfonsi, Romina, Rosati, Jessica, Schot, Rachel, Mancini, Grazia Maria Simonetta, Bertini, Enrico, Dobyns, William B, Mazza, Tommaso, Gleeson, Joseph G, Valente, Enza Maria

المصدر: ISSN: 0002-9297 ; American Journal of Human Genetics, vol. 101, no. 4 (2017) p. 552-563.

مصطلحات موضوعية: info:eu-repo/classification/ddc/618, Abnormalities, Multiple/genetics/pathology, Bone Diseases, Developmental/genetics/pathology, Cells, Cultured, Cerebellum/abnormalities/pathology, Child, Cohort Studies, Craniofacial Abnormalities/genetics/pathology, Eye Abnormalities/genetics/pathology, Female, Fibroblasts/metabolism/pathology, Gene Expression Regulation, Developmental, Genes, Recessive, Hedgehog Proteins/metabolism, Humans, Kidney Diseases, Cystic/genetics/pathology, Kruppel-Like Transcription Factors/metabolism, Male, Mutation, Missense, Nerve Tissue Proteins/metabolism, Repressor Proteins/chemistry/genetics/metabolism, Retina/abnormalities/pathology, Sequence Analysis

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28965847; https://archive-ouverte.unige.ch/unige:107721Test; unige:107721

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.08.017Test
https://archive-ouverte.unige.ch/unige:107721Test

المؤلفون: Danti, Federica Rachele, Galosi, Serena, Romani, Marta, Montomoli, Martino, Carss, Keren J., Raymond, F. Lucy, Parrini, Elena, Bianchini, Claudia, McShane, Tony, Dale, Russell C., Mohammad, Shekeeb S., Shah, Ubaid, Mahant, Neil, Ng, Joanne, McTague, Amy, Samanta, Rajib, Vadlamani, Gayatri, Valente, Enza Maria, Leuzzi, Vincenzo, Kurian, Manju A., Guerrini, Renzo

المصدر: Neurology Genetics ; volume 3, issue 2 ; ISSN 2376-7839

الإتاحة: https://doi.org/10.1212/nxg.0000000000000143Test

المؤلفون: Romani, Marta, Micalizzi, Alessia, Kraoua, Ichraf, Dotti, Maria Teresa, Cavallin, Mara, Sztriha, László, Ruta, Rosario, Mancini, Francesca, Mazza, Tommaso, Castellana, Stefano, Hanene, Benrhouma, Carluccio, Maria Alessandra, Máté, Adrienn, Zimmermann, Alíz, Gouider Khouja, Neziha, Valente, Enza Maria, DARRA, Francesca

المساهمون: Romani, Marta, Micalizzi, Alessia, Kraoua, Ichraf, Dotti, Maria Teresa, Cavallin, Mara, Sztriha, László, Ruta, Rosario, Mancini, Francesca, Mazza, Tommaso, Castellana, Stefano, Hanene, Benrhouma, Carluccio, Maria Alessandra, Darra, Francesca, Máté, Adrienn, Zimmermann, Alíz, Gouider Khouja, Neziha, Valente, Enza Maria

مصطلحات موضوعية: Abnormalities, Multiple, Adult, Cerebellar Disease, Cerebellum, Child, Preschool, Ciliary Motility Disorder, Encephalocele, Eye Abnormalitie, Female, Human, Kidney Diseases, Cystic, Magnetic Resonance Imaging, Male, Polycystic Kidney Disease, Protein, Retina, Severity of Illness Index, Mutation

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24886560; info:eu-repo/semantics/altIdentifier/wos/WOS:000336228600001; volume:9; issue:1; firstpage:72; lastpage:75; numberofpages:4; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11562/933382Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84900873114; http://www.ojrd.com/content/9/1/72Test

الإتاحة: https://doi.org/10.1186/1750-1172-9-72Test
http://hdl.handle.net/11562/933382Test
http://www.ojrd.com/content/9/1/72Test

المؤلفون: Roosing, Susanne, Romani, Marta, Isrie, Mala, Rosti, Rasim Ozgur, Micalizzi, Alessia, Musaev, Damir, Mazza, Tommaso, Al-Gazali, Lihadh, Altunoglu, Umut, Boltshauser, Eugen, D'Arrigo, Stefano, De Keersmaecker, Bart, Kayserili, Hülya, Brandenberger, Sarah, Kraoua, Ichraf, Mark, Paul R, McKanna, Trudy, Van Keirsbilck, Joachim, Moerman, Philippe, Poretti, Andrea, Puri, Ratna, Van Esch, Hilde, Gleeson, Joseph G, Valente, Enza Maria

المصدر: Roosing, Susanne; Romani, Marta; Isrie, Mala; Rosti, Rasim Ozgur; Micalizzi, Alessia; Musaev, Damir; Mazza, Tommaso; Al-Gazali, Lihadh; Altunoglu, Umut; Boltshauser, Eugen; D'Arrigo, Stefano; De Keersmaecker, Bart; Kayserili, Hülya; Brandenberger, Sarah; Kraoua, Ichraf; Mark, Paul R; McKanna, Trudy; Van Keirsbilck, Joachim; Moerman, Philippe; Poretti, Andrea; Puri, Ratna; Van Esch, Hilde; Gleeson, Joseph G; Valente, Enza Maria (2016). Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. Journal of Medical Genetics, 53(9):608-615.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/134812/1/RoosingS_2016.pdfTest; info:pmid/27208211; urn:issn:0022-2593

الإتاحة: https://doi.org/10.5167/uzh-13481210.1136/jmedgenet-2016-103832Test
https://www.zora.uzh.ch/id/eprint/134812Test/
https://www.zora.uzh.ch/id/eprint/134812/1/RoosingS_2016.pdfTest

المؤلفون: Li, Chunmei, Jensen, Victor L., Park, Kwangjin, Kennedy, Julie, Garcia-Gonzalo, Francesc R., Romani, Marta, De Mori, Roberta, Bruel, Ange-Line, Gaillard, Dominique, Doray, Bérénice, Lopez, Estelle, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel, Reiter, Jeremy F., Blacque, Oliver E., Valente, Enza Maria, Leroux, Michel R.

المساهمون: Basto, Renata

المصدر: PLOS Biology ; volume 14, issue 3, page e1002416 ; ISSN 1545-7885

الإتاحة: https://doi.org/10.1371/journal.pbio.1002416Test

المؤلفون: Romani, Marta, Mehawej, Cybel, Mazza, Tommaso, Mégarbané, Andre, Valente, Enza Maria

المصدر: Neurology Genetics ; volume 2, issue 2 ; ISSN 2376-7839 2376-7839

الإتاحة: https://doi.org/10.1212/nxg.0000000000000061Test