On the Complexity of Visual Judgement of Kinship

by Linda Brodo, Enrico Grosso
Published 2019-05-01

A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

by Giorgia Mandrile, Eleonora Di Gregorio, Alessandro Calcia, Alessandro Brussino, Enrico Grosso, Elisa Savin, Daniela Francesca Giachino, Alfredo Brusco
Published 2014-01-01

Assessment of a High Sensitivity Method for Identification of <i>IDH1</i> R132x Mutations in Tumors and Plasma of Intrahepatic Cholangiocarcinoma Patients

by Caterina Peraldo-Neia, Maria Scatolini, Enrico Grosso, Pasquale Lombardi, Roberto Filippi, Chiara Raggi, Caterina Marchiò, Giuliana Cavalloni, Massimo Aglietta, Francesco Leone
Published 2019-03-01

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism

by Laura Cristina Gironi, Enrico Colombo, Alfredo Brusco, Enrico Grosso, Valeria Giorgia Naretto, Andrea Guala, Eleonora Di Gregorio, Andrea Zonta, Francesca Zottarelli, Barbara Pasini, Paola Savoia
Published 2019-07-01

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature

by Ilaria Catusi, Maria Garzo, Anna Paola Capra, Silvana Briuglia, Chiara Baldo, Maria Paola Canevini, Rachele Cantone, Flaviana Elia, Francesca Forzano, Ornella Galesi, Enrico Grosso, Michela Malacarne, Angela Peron, Corrado Romano, Monica Saccani, Lidia Larizza, Maria Paola Recalcati
Published 2021-04-01

Diagnosis of maternal Hodgkin lymphoma following abnormal findings at noninvasive prenatal screening test (NIPT): Report of two cases

by Alessia Castellino, Simona Elba, Roberto Sorasio, Claudia Castellino, Margherita Bonferroni, Mariella Grasso, Enrico Grosso, Rosalba Giacchello, Anna Franca Signorile, Ivana Celeghini, Daniele Mattei, Nicola Mordini, Myriam Foglietta, Bianca Masturzo, Roberto Priotto, Andrea Zonta, Davide Rapezzi, Massimo Massaia
Published 2021-03-01

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

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Cha...

by Vilma Mantovani, Vilma Mantovani, Sofia Bin, Sofia Bin, Claudio Graziano, Irene Capelli, Raffaella Minardi, Raffaella Minardi, Valeria Aiello, Enrico Ambrosini, Carlotta Pia Cristalli, Carlotta Pia Cristalli, Alessandro Mattiaccio, Milena Pariali, Sara De Fanti, Flavio Faletra, Enrico Grosso, Rachele Cantone, Elena Mancini, Francesca Mencarelli, Andrea Pasini, Anita Wischmeijer, Nicola Sciascia, Marco Seri, Gaetano La Manna
Published 2020-05-01

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

by Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Pisani, Conceicao Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Gueden, Omer Bar-Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago-Sim, Richard E. Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong-Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael A. Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad M. Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz-Rogers, Eric W. Klee, David Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier Gonzalez-Peñas, Angel Carracedo, Arie Van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Heron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, SYNAPS Study Group, Miquel Raspall-Chaure, Michael Chez, Anne Tsai, Emily Fassi, Marwan Shinawi, John N. Constantino, Rita De Zorzi, Sara Fortuna, Fernando Kok, Boris Keren, Dominique Bonneau, Murim Choi, Bruria Benzeev, Federico Zara, Heather C. Mefford, Ingrid E. Scheffer, Jill Clayton-Smith, Alfons Macaya, James E. Rothman, Evan E. Eichler, Dimitri M. Kullmann, Henry Houlden
Published 2019-07-01