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Characterization of a novel FLI1 mutation in a family with thrombocytopenia and other congenital malformations by Daniele Ammeti, Serena Barozzi, Alessandro Pecci, Melania Eva Zanchetta, Edward Cesnik, Alessandra Ferlini, Mariabeatrice Sanchini, Laura Verga, Valeria Bozzi, Fabio Corsolini, Michela Faleschini, Anna Savoia, Stefania Bigoni
Published 2025-06-01Get full text
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<i>MECP2</i> mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping by Martina Mietto, Silvia Montanari, Maria Sofia Falzarano, Elisa Manzati, Paola Rimessi, Marina Fabris, Rita Selvatici, Francesca Gualandi, Marcella Neri, Fernanda Fortunato, Miryam Rosa Stella Foti, Stefania Bigoni, Marco Gessi, Marcella Vacca, Silvia Torelli, Joussef Hayek, Alessandra Ferlini
Published 2025-05-01Get full text
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Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. by Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Motta, Massimo Molteni, Corrado Romano, Donatella Greco, Santina Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D'Arrigo, Daria Riva, Francesca Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frederique Bena, Alfredo Brusco, Eleonora di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, Maria Luisa Martinez-Frias, Maria Luisa Martínez-Fernández, Nieves Martínez Guardia, Anna Bremer, Britt-Marie Anderlid, Orsetta Zuffardi
Published 2011-07-01Get full text
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