Search Results - Cinzia Magnani
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Pathogenic variants in <scp><i>EP300</i></scp> and <scp><i>ANKRD11</i></scp> in patients with phenotypes overlapping Cornelia de Lange syndrome by Francesco Cucco, Patrizia Sarogni, Sara Rossato, Mirella Alpa, Alessandra Patimo, Ana Latorre, Cinzia Magnani, Beatriz Puisac, Feliciano J. Ramos, Juan Pié, Antonio Musio
Published 2020Artigo -
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Marriage and parenthood among childhood cancer survivors: a report from the Italian AIEOP Off-Therapy Registry by Emanuele Pivetta, Milena Maule, Paola Pisani, Daniela Zugna, Riccardo Haupt, Momcilo Jankovic, Maurizio Aricò, Fiorina Casale, A. Clerico, Luca Cordero di Montezemolo, Valentina Kiren, Franco Locatelli, G. Palumbo, Andrea Pession, Marta Pillon, Nicola Santoro, Monica Terenziani, Maria Grazia Valsecchi, Elisa Dama, Cinzia Magnani, F. Merletti, G Pastore
Published 2011Artigo -
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FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development by Sheila Unger, Maria W. Górna, Antony Le Béchec, Sónia do Vale-Pereira, Maria Francesca Bedeschi, Stefan Geiberger, Giedre Grigelioniené, Eva Horemuzova, Faustina Lalatta, Ekkehart Lausch, Cinzia Magnani, Sheela Nampoothiri, Gen Nishimura, Duccio Petrella, Francisca Rojas, Akari Utsunomiya, Bernhard Zabel, Sylvain Pradervand, Keith Harshman, Belinda Campos‐Xavier, Luisa Bonafé, Giulio Superti‐Furga, Brian J. Stevenson, Andrea Superti‐Furga
Published 2013Artigo -
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Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome by Saskia M. Maas, Adam Shaw, Hennie Bikker, H.-J. Lüdecke, Karin van der Tuin, Magdalena Badura‐Stronka, Elga Fabia Belligni, Elisa Biamino, Maria Teresa Bonati, Daniel R. Carvalho, Jan-Maarten Cobben, de Man, Nicolette S. den Hollander, Nataliya Di Donato, Livia Garavelli, Sabine Grønborg, Johanna C. Herkert, A. Jeannette M. Hoogeboom, Aleksander Jamsheer, Anna Latos‐Bieleńska, Anneke Maat‐Kievit, Cinzia Magnani, Carlo Marcelis, Inge B. Mathijssen, Maartje Nielsen, Ellen Otten, Lilian Bomme Ousager, Jacek Pilch, Astrid S. Plomp, Gemma Poke, Anna Poluha, Renata Posmyk, Claudine Rieubland, Margharita Silengo, Marleen Simon, Elisabeth Steichen, Connie T. R. M. Stumpel, Katalin Szakszon, Edit Polonkai, Jenneke van den Ende, Antony van der Steen, Ton van Essen, Arie van Haeringen, Johanna M. van Hagen, Joanne Verheij, Marcel M.A.M. Mannens, Raoul C. M. Hennekam
Published 2015Artigo -
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Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients by Kristien Hoornaert, Inge Vereecke, Chantal Dewinter, Thomas Rosenberg, Frits A. Beemer, Jules G. Leroy, Laila Bendix, Erik Björck, M Bonduelle, Odile Boute, Valérie Cormier‐Daire, Christine De Die-Smulders, Anne Dieux‐Coëslier, Hélène Dollfus, Mariet Elting, Andrew Green, Veronica Ileana Guerci, Raoul C. M. Hennekam, Yvonne Hilhorts-Hofstee, Muriel Holder, Carel C B Hoyng, Kristi Jones, Dragana Josifova, Ilkka Kaitila, Suzanne Kjaergaard, Yolande H Kroes, Kristina Lagerstedt‐Robinson, Melissa Lees, Martine LeMerrer, Cinzia Magnani, Carlo Marcelis, Loreto Martorell, Michèle Mathieu, Meriel McEntagart, Angela Mendicino, Jenny Morton, Gabrielli Orazio, Véronique Paquis, Orit Reish, K. O. J. Simola, Sarah Smithson, I. Karen Temple, Elisabeth Van Aken, Yolande van Bever, Jenneke van den Ende, Johanna M. van Hagen, Leopoldo Zelante, Riina Žordania, Anne De Paepe, Bart P. Leroy, Marc De Buyzere, Paul Coucke, Geert Mortier
Published 2010Artigo
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