133 results for Zuffardi,+Orsetta

133 results for Zuffardi,+Orsetta

Export record to excel

File type to download

Beta version
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Franke, Martin ; Ibrahim, Daniel M. ; Andrey, Guillaume ; Schwarzer, Wibke ; Heinrich, Verena ; Schöpflin, Robert ; Kraft, Katerina ; Kempfer, Rieke ; Jerković, Ivana ; Chan, Wing-Lee ; Spielmann, Malte ; Timmermann, Bernd ; Wittler, Lars ; Kurth, Ingo ; Cambiaso, Paola ; Zuffardi, Orsetta ; Houge, Gunnar ; Lambie, Lindsay ; Brancati, Francesco ; Pombo, Ana ; Vingron, Martin ; Spitz, Francois ; Mundlos, Stefan
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature (London), 2016-10, Vol.538 (7624), p.265-269
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Forlino, Antonella ; Vetro, Annalisa ; Garavelli, Livia ; Ciccone, Roberto ; London, Edra ; Stratakis, Constantine A ; Zuffardi, Orsetta
    Publisher:United States: Massachusetts Medical Society
    Journal title:The New England journal of medicine, 2014-03, Vol.370 (11), p.1065-1067
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Beuschlein, Felix ; Fassnacht, Martin ; Assié, Guillaume ; Calebiro, Davide ; Stratakis, Constantine A ; Osswald, Andrea ; Ronchi, Cristina L ; Wieland, Thomas ; Sbiera, Silviu ; Faucz, Fabio R ; Schaak, Katrin ; Schmittfull, Anett ; Schwarzmayr, Thomas ; Barreau, Olivia ; Vezzosi, Delphine ; Rizk-Rabin, Marthe ; Zabel, Ulrike ; Szarek, Eva ; Salpea, Paraskevi ; Forlino, Antonella ; Vetro, Annalisa ; Zuffardi, Orsetta ; Kisker, Caroline ; Diener, Susanne ; Meitinger, Thomas ; Lohse, Martin J ; Reincke, Martin ; Bertherat, Jérome ; Strom, Tim M ; Allolio, Bruno
    Publisher:Waltham, MA: Massachusetts Medical Society
    Journal title:The New England journal of medicine, 2014-03, Vol.370 (11), p.1019-1028
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Cova, Giulia ; Glaser, Juliane ; Schöpflin, Robert ; Prada-Medina, Cesar Augusto ; Ali, Salaheddine ; Franke, Martin ; Falcone, Rita ; Federer, Miriam ; Ponzi, Emanuela ; Ficarella, Romina ; Novara, Francesca ; Wittler, Lars ; Timmermann, Bernd ; Gentile, Mattia ; Zuffardi, Orsetta ; Spielmann, Malte ; Mundlos, Stefan
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature communications, 2023-03, Vol.14 (1), p.1475-1475, Article 1475
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Schöpflin, Robert ; Melo, Uirá Souto ; Moeinzadeh, Hossein ; Heller, David ; Laupert, Verena ; Hertzberg, Jakob ; Holtgrewe, Manuel ; Alavi, Nico ; Klever, Marius-Konstantin ; Jungnitsch, Julius ; Comak, Emel ; Türkmen, Seval ; Horn, Denise ; Duffourd, Yannis ; Faivre, Laurence ; Callier, Patrick ; Sanlaville, Damien ; Zuffardi, Orsetta ; Tenconi, Romano ; Kurtas, Nehir Edibe ; Giglio, Sabrina ; Prager, Bettina ; Latos-Bielenska, Anna ; Vogel, Ida ; Bugge, Merete ; Tommerup, Niels ; Spielmann, Malte ; Vitobello, Antonio ; Kalscheuer, Vera M. ; Vingron, Martin ; Mundlos, Stefan
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature communications, 2022-10, Vol.13 (1), p.6470-6470, Article 6470
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Errichiello, Edoardo ; Zagnoli-Vieira, Guido ; Rizzi, Romana ; Garavelli, Livia ; Caldecott, Keith W. ; Zuffardi, Orsetta
    Publisher:England: Nature Publishing Group
    Journal title:Journal of human genetics, 2020-12, Vol.65 (12), p.1135-1141
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Vetro, Annalisa ; Savasta, Salvatore ; Russo Raucci, Annalisa ; Cerqua, Cristina ; Sartori, Geppo ; Limongelli, Ivan ; Forlino, Antonella ; Maruelli, Silvia ; Perucca, Paola ; Vergani, Debora ; Mazzini, Giuliano ; Mattevi, Andrea ; Stivala, Lucia Anna ; Salviati, Leonardo ; Zuffardi, Orsetta
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2017-05, Vol.25 (5), p.646-650
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Cova, Giulia ; Glaser, Juliane ; Schöpflin, Robert ; Prada-Medina, Cesar Augusto ; Ali, Salaheddine ; Franke, Martin ; Falcone, Rita ; Federer, Miriam ; Ponzi, Emanuela ; Ficarella, Romina ; Novara, Francesca ; Wittler, Lars ; Timmermann, Bernd ; Gentile, Mattia ; Zuffardi, Orsetta ; Spielmann, Malte ; Mundlos, Stefan
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature communications, 2023-05, Vol.14 (1), p.2839-2839, Article 2839
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Mina, Erika Della ; Borghesi, Alessandro ; Zhou, Hao ; Bougarn, Salim ; Boughorbel, Sabri ; Israel, Laura ; Meloni, Ilaria ; Chrabieh, Maya ; Ling, Yun ; Itan, Yuval ; Renieri, Alessandra ; Mazzucchelli, Iolanda ; Basso, Sabrina ; Pavone, Piero ; Falsaperla, Raffaele ; Ciccone, Roberto ; Cerbo, Rosa Maria ; Stronati, Mauro ; Picard, Capucine ; Zuffardi, Orsetta ; Abel, Laurent ; Chaussabel, Damien ; Marr, Nico ; Li, Xiaoxia ; Casanova, Jean-Laurent ; Puel, Anne
    Publisher:United States: National Academy of Sciences
    Journal title:Proceedings of the National Academy of Sciences - PNAS, 2017-01, Vol.114 (4), p.E514-E523
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Provenzano, Aldesia ; La Barbera, Andrea ; Scagnet, Mirko ; Pagliazzi, Angelica ; Traficante, Giovanna ; Pantaleo, Marilena ; Tiberi, Lucia ; Vergani, Debora ; Kurtas, Nehir Edibe ; Guarducci, Silvia ; Bargiacchi, Sara ; Forzano, Giulia ; Artuso, Rosangela ; Palazzo, Viviana ; Kura, Ada ; Giordano, Flavio ; di Feo, Daniele ; Mortilla, Marzia ; De Filippi, Claudio ; Mattei, Gianluca ; Garavelli, Livia ; Giusti, Betti ; Genitori, Lorenzo ; Zuffardi, Orsetta ; Giglio, Sabrina
    Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
    Journal title:Human genetics, 2021-04, Vol.140 (4), p.625-647
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Bonaglia, Maria Clara ; Giorda, Roberto ; Beri, Silvana ; De Agostini, Cristina ; Novara, Francesca ; Fichera, Marco ; Grillo, Lucia ; Galesi, Ornella ; Vetro, Annalisa ; Ciccone, Roberto ; Bonati, Maria Teresa ; Giglio, Sabrina ; Guerrini, Renzo ; Osimani, Sara ; Marelli, Susan ; Zucca, Claudio ; Grasso, Rita ; Borgatti, Renato ; Mani, Elisa ; Motta, Cristina ; Molteni, Massimo ; Romano, Corrado ; Greco, Donatella ; Reitano, Santina ; Baroncini, Anna ; Lapi, Elisabetta ; Cecconi, Antonella ; Arrigo, Giulia ; Patricelli, Maria Grazia ; Pantaleoni, Chiara ; D'Arrigo, Stefano ; Riva, Daria ; Sciacca, Francesca ; Dalla Bernardina, Bernardo ; Zoccante, Leonardo ; Darra, Francesca ; Termine, Cristiano ; Maserati, Emanuela ; Bigoni, Stefania ; Priolo, Emanuela ; Bottani, Armand ; Gimelli, Stefania ; Bena, Frederique ; Brusco, Alfredo ; di Gregorio, Eleonora ; Bagnasco, Irene ; Giussani, Ursula ; Nitsch, Lucio ; Politi, Pierluigi ; Martinez-Frias, Maria Luisa ; Martínez-Fernández, Maria Luisa ; Martínez Guardia, Nieves ; Bremer, Anna ; Anderlid, Britt-Marie ; Zuffardi, Orsetta
    Publisher:United States: Public Library of Science
    Journal title:PLoS genetics, 2011-07, Vol.7 (7), p.e1002173
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Rossi, Elena ; Radi, Orietta ; De Lorenzi, Lisa ; Vetro, Annalisa ; Groppetti, Debora ; Bigliardi, Enrico ; Luvoni, Gaia Cecilia ; Rota, Ada ; Camerino, Giovanna ; Zuffardi, Orsetta ; Parma, Pietro
    Publisher:United States: Public Library of Science
    Journal title:PloS one, 2014-07, Vol.9 (7), p.e101244
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Ivanovski, Ivan ; Caraffi, Stefano Giuseppe ; Magnani, Elisa ; Rosato, Simonetta ; Pollazzon, Marzia ; Matalonga, Leslie ; Piana, Simonetta ; Nicoli, Davide ; Baldo, Chiara ; Bernasconi, Sergio ; Frasoldati, Andrea ; Zuffardi, Orsetta ; Garavelli, Livia
    Publisher:England: Nature Publishing Group
    Journal title:Journal of human genetics, 2020-01, Vol.65 (2), p.133-141
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Vetro, Annalisa ; Dehghani, Mohammad Reza ; Kraoua, Lilia ; Giorda, Roberto ; Beri, Silvana ; Cardarelli, Laura ; Merico, Maurizio ; Manolakos, Emmanouil ; Parada-Bustamante, Alexis ; Castro, Andrea ; Radi, Orietta ; Camerino, Giovanna ; Brusco, Alfredo ; Sabaghian, Marjan ; Sofocleous, Crystalena ; Forzano, Francesca ; Palumbo, Pietro ; Palumbo, Orazio ; Calvano, Savino ; Zelante, Leopoldo ; Grammatico, Paola ; Giglio, Sabrina ; Basly, Mohamed ; Chaabouni, Myriam ; Carella, Massimo ; Russo, Gianni ; Bonaglia, Maria Clara ; Zuffardi, Orsetta
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2015-08, Vol.23 (8), p.1025-1032
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Gannon, Tamsin ; Perveen, Rahat ; Schlecht, Hélene ; Ramsden, Simon ; Anderson, Beverley ; Kerr, Bronwyn ; Day, Ruth ; Banka, Siddharth ; Suri, Mohnish ; Berland, Siren ; Gabbett, Michael ; Ma, Alan ; Lyonnet, Stan ; Cormier-Daire, Valerie ; Yilmaz, Rüstem ; Borck, Guntram ; Wieczorek, Dagmar ; Anderlid, Britt-Marie ; Smithson, Sarah ; Vogt, Julie ; Moore-Barton, Heather ; Simsek-Kiper, Pelin Ozlem ; Maystadt, Isabelle ; Destrée, Anne ; Bucher, Jessica ; Angle, Brad ; Mohammed, Shehla ; Wakeling, Emma ; Price, Sue ; Singer, Amihood ; Sznajer, Yves ; Toutain, Annick ; Haye, Damien ; Newbury-Ecob, Ruth ; Fradin, Melanie ; McGaughran, Julie ; Tuysuz, Beyhan ; Tein, Mark ; Bouman, Katelijne ; Dabir, Tabib ; Van den Ende, Jenneke ; Luk, Ho Ming ; Pilz, Daniela T ; Eason, Jacqueline ; Davies, Sally ; Reardon, Willie ; Garavelli, Livia ; Zuffardi, Orsetta ; Devriendt, Koen ; Armstrong, Ruth ; Johnson, Diana ; Doco-Fenzy, Martine ; Bijlsma, Emilia ; Unger, Sheila ; Veenstra-Knol, Hermine E ; Kohlhase, Jürgen ; Lo, Ivan FM ; Smith, Janine ; Clayton-Smith, Jill
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1165-1170
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Rinaldi, Berardo ; Vaisfeld, Alessandro ; Amarri, Sergio ; Baldo, Chiara ; Gobbi, Giuseppe ; Magini, Pamela ; Melli, Erto ; Neri, Giovanni ; Novara, Francesca ; Pippucci, Tommaso ; Rizzi, Romana ; Soresina, Annarosa ; Zampini, Laura ; Zuffardi, Orsetta ; Crimi, Marco
    Publisher:England: BioMed Central
    Journal title:Orphanet journal of rare diseases, 2017-04, Vol.12 (1), p.69-69, Article 69
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Marini, Simone ; Limongelli, Ivan ; Rizzo, Ettore ; Malovini, Alberto ; Errichiello, Edoardo ; Vetro, Annalisa ; Da, Tan ; Zuffardi, Orsetta ; Bellazzi, Riccardo
    Publisher:United States: Public Library of Science
    Journal title:PloS one, 2016-12, Vol.11 (12), p.e0164940-e0164940
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Cattaneo, Monica ; La Sala, Lucia ; Rondinelli, Maurizio ; Errichiello, Edoardo ; Zuffardi, Orsetta ; Puca, Annibale Alessandro ; Genovese, Stefano ; Ceriello, Antonio
    Publisher:England: BioMed Central Ltd
    Journal title:BMC medical genetics, 2017-12, Vol.18 (1), p.147-8, Article 147
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Maini, Ilenia ; Errichiello, Edoardo ; Caraffi, Stefano Giuseppe ; Rosato, Simonetta ; Bizzarri, Veronica ; Pollazzon, Marzia ; Trimarchi, Gabriele ; Contrò, Gianluca ; Cavirani, Benedetta ; Gelmini, Chiara ; Napoli, Manuela ; Moratti, Claudio ; Pascarella, Rosario ; Rizzi, Susanna ; Fusco, Carlo ; Zuffardi, Orsetta ; Garavelli, Livia
    Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
    Journal title:Neurogenetics, 2021-03, Vol.22 (1), p.19-25
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
  • Export this record

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Errichiello, Edoardo ; Giorda, Roberto ; Gambale, Antonella ; Iolascon, Achille ; Zuffardi, Orsetta ; Giglio, Sabrina
    Publisher:United States: John Wiley & Sons, Inc
    Journal title:Molecular genetics & genomic medicine, 2021-01, Vol.9 (1), p.e1561-n/a
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
Showing 1 to 20 of 133 results