When Feeding Difficulties Are due to Genetics

by Laura Travan, Maria Santa Rocca, Francesca Buonomo, Lisa Cleva, Vanna Pecile, Angela De Cunto
Published 2015-02-01

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome

by Elisa A. Colombo, Andrea Locatelli, Laura Cubells Sánchez, Sara Romeo, Nursel H. Elcioglu, Isabelle Maystadt, Altea Esteve Martínez, Alessandra Sironi, Laura Fontana, Palma Finelli, Cristina Gervasini, Vanna Pecile, Lidia Larizza
Published 2018-04-01

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy N...

by Anna Morgan, Stefania Lenarduzzi, Stefania Cappellani, Vanna Pecile, Marcello Morgutti, Eva Orzan, Sara Ghiselli, Umberto Ambrosetti, Marco Brumat, Poornima Gajendrarao, Martina La Bianca, Flavio Faletra, Enrico Grosso, Fabio Sirchia, Alberto Sensi, Claudio Graziano, Marco Seri, Paolo Gasparini, Paolo Gasparini, Giorgia Girotto, Giorgia Girotto
Published 2018-12-01

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate

by Ilaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, Maria Garzo, Chiara Valtorta, Melissa Alfonsi, Alberta Alghisi, Stefania Cappellani, Rosario Casalone, Rossella Caselli, Caterina Ceccarini, Carlo Ceglia, Anna Maria Ciaschini, Domenico Coviello, Francesca Crosti, Annamaria D'Aprile, Antonella Fabretto, Rita Genesio, Marzia Giagnacovo, Paola Granata, Ilaria Longo, Michela Malacarne, Giuseppina Marseglia, Annamaria Montaldi, Anna Maria Nardone, Chiara Palka, Vanna Pecile, Chiara Pessina, Diana Postorivo, Serena Redaelli, Alessandra Renieri, Chiara Rigon, Fabiola Tiberi, Mariella Tonelli, Nicoletta Villa, Anna Zilio, Daniela Zuccarello, Antonio Novelli, Lidia Larizza, Daniela Giardino
Published 2020-01-01

Retrospective study 2005–2015 of all cases of fetal death occurred at ≥23 gestational weeks, in Friusli Venezia Giulia, Italy

by Lorenzo Monasta, Manuela Giangreco, Emanuele Ancona, Fabio Barbone, Elisa Bet, Pierino Boschian-Bailo, Giovanna Cacciaguerra, Angelo Cagnacci, Melania Canton, Maddalena Casarotto, Manola Comar, Simona Contardo, Michela De Agostini, Francesco De Seta, Giovanni Del Ben, Carla Di Loreto, Lorenza Driul, Stefano Facchin, Roberta Giornelli, Annalisa Ianni, Santo La Valle, Ambrogio Pietro Londero, Marciano Manfè, Gianpaolo Maso, Raffaela Mugittu, Monica Olivuzzi, Maria Orsaria, Vanna Pecile, Roberta Pinzano, Francesco Pirrone, Mariachiara Quadrifoglio, Giuseppe Ricci, Luca Ronfani, Tiziana Salviato, Elisa Sandrigo, Silvia Smiroldo, Alice Sorz, Tamara Stampalija, Marianela Urriza, Michele Vanin, Giuseppina Verardi, Salvatore Alberico
Published 2020-07-01