Αποτελέσματα αναζήτησης - Belligni, Elga

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability από Belligni, Elga F, Biamino, Elisa, Molinatto, Cristina, Messa, Jole, Pierluigi, Mauro, Faravelli, Francesca, Zuffardi, Orsetta, Ferrero, Giovanni B, Silengo, Margherita Cirillo

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Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review από Maini, Ilenia, Ivanovski, Ivan, Iodice, Alessandro, Rosato, Simonetta, Pollazzon, Marzia, Mussini, Manuela, Belligni, Elga F., Coutton, Charles, Marinelli, Maria, Barbieri, Veronica, Napoli, Manuela, Pascarella, Rosario, Sartori, Chiara, Madia, Francesca, Fusco, Carlo, Franchi, Fabrizia, Street, Maria E., Garavelli, Livia

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A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome από Caputo, Viviana, Cianetti, Luciano, Niceta, Marcello, Carta, Claudio, Ciolfi, Andrea, Bocchinfuso, Gianfranco, Carrani, Eugenio, Dentici, Maria Lisa, Biamino, Elisa, Belligni, Elga, Garavelli, Livia, Boccone, Loredana, Melis, Daniela, Andria, Generoso, Gelb, Bruce D., Stella, Lorenzo, Silengo, Margherita, Dallapiccola, Bruno, Tartaglia, Marco

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Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH από Di Gregorio, Eleonora, Savin, Elisa, Biamino, Elisa, Belligni, Elga Fabia, Naretto, Valeria Giorgia, D’Alessandro, Gaetana, Gai, Giorgia, Fiocchi, Franco, Calcia, Alessandro, Mancini, Cecilia, Giorgio, Elisa, Cavalieri, Simona, Talarico, Flavia, Pappi, Patrizia, Gandione, Marina, Grosso, Monica, Asnaghi, Valentina, Restagno, Gabriella, Mandrile, Giorgia, Botta, Giovanni, Silengo, Margherita Cirillo, Grosso, Enrico, Ferrero, Giovanni Battista, Brusco, Alfredo

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Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability από Reggiani, Claudio, Coppens, Sandra, Sekhara, Tayeb, Dimov, Ivan, Pichon, Bruno, Lufin, Nicolas, Addor, Marie-Claude, Belligni, Elga Fabia, Digilio, Maria Cristina, Faletra, Flavio, Ferrero, Giovanni Battista, Gerard, Marion, Isidor, Bertrand, Joss, Shelagh, Niel-Bütschi, Florence, Perrone, Maria Dolores, Petit, Florence, Renieri, Alessandra, Romana, Serge, Topa, Alexandra, Vermeesch, Joris Robert, Lenaerts, Tom, Casimir, Georges, Abramowicz, Marc, Bontempi, Gianluca, Vilain, Catheline, Deconinck, Nicolas, Smits, Guillaume

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Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype από Palomares, María, Delicado, Alicia, Mansilla, Elena, de Torres, María Luisa, Vallespín, Elena, Fernandez, Luis, Martinez-Glez, Victor, García-Miñaur, Sixto, Nevado, Julián, Simarro, Fernando Santos, Ruiz-Perez, Victor L., Lynch, Sally Ann, Sharkey, Freddie H., Thuresson, Ann-Charlotte, Annerén, Göran, Belligni, Elga F., Martínez-Fernández, María Luisa, Bermejo, Eva, Nowakowska, Beata, Kutkowska-Kazmierczak, Anna, Bocian, Ewa, Obersztyn, Ewa, Martínez-Frías, María Luisa, Hennekam, Raoul C.M., Lapunzina, Pablo

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Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients από Micale, Lucia, Augello, Bartolomeo, Fusco, Carmela, Selicorni, Angelo, Loviglio, Maria N, Silengo, Margherita Cirillo, Reymond, Alexandre, Gumiero, Barbara, Zucchetti, Federica, D'Addetta, Ester V, Belligni, Elga, Calcagnì, Alessia, Digilio, Maria C, Dallapiccola, Bruno, Faravelli, Francesca, Forzano, Francesca, Accadia, Maria, Bonfante, Aldo, Clementi, Maurizio, Daolio, Cecilia, Douzgou, Sofia, Ferrari, Paola, Fischetto, Rita, Garavelli, Livia, Lapi, Elisabetta, Mattina, Teresa, Melis, Daniela, Patricelli, Maria G, Priolo, Manuela, Prontera, Paolo, Renieri, Alessandra, Mencarelli, Maria A, Scarano, Gioacchino, Monica, Matteo della, Toschi, Benedetta, Turolla, Licia, Vancini, Alessandra, Zatterale, Adriana, Gabrielli, Orazio, Zelante, Leopoldo, Merla, Giuseppe

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Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients από Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P., Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Baris, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch-Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R

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