Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss by Ascari, Giulia, Rendtorff, Nanna D, De Bruyne, Marieke, De Zaeytijd, Julie, Van Lint, Michel, Bauwens, Miriam, Van Heetvelde, Mattias, Arno, Gavin, Jacob, Julie, Creytens, David, Van Dorpe, Jo, Van Laethem, Thalia, Rosseel, Toon, De Pooter, Tim, De Rijk, Peter, De Coster, Wouter, Menten, Björn, Rey, Alfredo Dueñas, Strazisar, Mojca, Bertelsen, Mette, Tranebjaerg, Lisbeth, De Baere, Elfride

Get full text

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination by Coppieters, Frauke, Ascari, Giulia, Dannhausen, Katharina, Nikopoulos, Konstantinos, Peelman, Frank, Karlstetter, Marcus, Xu, Mingchu, Brachet, Cécile, Meunier, Isabelle, Tsilimbaris, Miltiadis K., Tsika, Chrysanthi, Blazaki, Styliani V., Vergult, Sarah, Farinelli, Pietro, Van Laethem, Thalia, Bauwens, Miriam, De Bruyne, Marieke, Chen, Rui, Langmann, Thomas, Sui, Ruifang, Meire, Françoise, Rivolta, Carlo, Hamel, Christian P., Leroy, Bart P., De Baere, Elfride

Get full text

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa by Benaglio, Paola, San Jose, Patricia Fernandez, Avila-Fernandez, Almudena, Ascari, Giulia, Harper, Shyana, Manes, Gaël, Ayuso, Carmen, Hamel, Christian, Berson, Eliot L, Rivolta, Carlo

Get full text

Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index: e1004508 by Hoggart, Clive J, Venturini, Giulia, Mangino, Massimo, Gomez, Felicia, Ascari, Giulia, Zhao, Jing Hua, Teumer, Alexander, Winkler, Thomas W, Tsernikova, Natalia, Luan, an, Mihailov, Evelin, Ehret, Georg B, Zhang, Weihua, Lamparter, David, Esko, Tõnu, Macé, Aurelien, Rüeger, Sina, Bochud, Pierre-Yves, Barcella, Matteo, Dauvilliers, Yves, Benyamin, Beben, Evans, David M, Hayward, Caroline, Lopez, Mary F, Franke, Lude, Russo, Alessia, Heid, Iris M, Salvi, Erika, Vendantam, Sailaja, Arking, Dan E, Boerwinkle, Eric, Chambers, John C, Fiorito, Giovanni, Grallert, Harald, Guarrera, Simonetta, Homuth, Georg, Huffman, Jennifer E, Porteous, David, Moradpour, Darius, Iranzo, Alex, Hebebrand, Johannes, Kemp, John P, Lammers, Gert J, Aubert, Vincent, Heim, Markus H, Martin, Nicholas G, Montgomery, Grant W, Peraita-Adrados, Rosa, Santamaria, Joan, Negro, Francesco, Schmidt, Carsten O, Scott, Robert A, Spector, Tim D, Strauch, Konstantin, Völzke, Henry, Wareham, Nicholas J, Yuan, Wei, Bell, Jordana T, Chakravarti, Aravinda, Kooner, Jaspal S, Peters, Annette, Matullo, Giuseppe, Wallaschofski, Henri, Whitfield, John B, Paccaud, Fred, Vollenweider, Peter, Bergmann, Sven, Beckmann, Jacques S, Tafti, Mehdi, Hastie, Nicholas D, Cusi, Daniele, Bochud, Murielle, Frayling, Timothy M, Metspalu, Andres, Jarvelin, Marjo-Riitta, Scherag, André, Smith, George Davey, Borecki, Ingrid B, Rousson, Valentin, Hirschhorn, Joel N, Rivolta, Carlo, Loos, Ruth JF, Kutalik, Zoltán, Consortium, Generation Scotland, study, The LifeLinesCohort, Consortium, The GIANT

Get full text

Imaging-based indices combining disease severity and time from disease onset to predict COVID-19 mortality: A cohort study by Besutti, Giulia, Djuric, Olivera, Ottone, Marta, Monelli, Filippo, Lazzari, Patrizia, Ascari, Francesco, Ligabue, Guido, Guaraldi, Giovanni, Pezzuto, Giuseppe, Bechtold, Petra, Massari, Marco, Lattuada, Ivana, Luppi, Francesco, Galli, Maria Giulia, Pattacini, Pierpaolo, Giorgi Rossi, Paolo

Get full text

Bullous irritant contact dermatitis caused by an alcoholic extract from Juglans regia leaves by Corazza, Monica, Scuderi, Valeria, Toni, Giulia, Ascari Raccagni, Antonio, Borghi, Alessandro

Get full text

Citizens’ exposure to predominant noise sources in agglomerations by Bolognese, Matteo, Fredianelli, Luca, Stasi, Gianmarco, Ascari, Elena, Crifaci, Giulia, Licitra, Gaetano

Get full text

Imaging-based indices combining disease severity and time from disease onset to predict COVID-19 mortality: A cohort study by Giulia Besutti, Olivera Djuric, Marta Ottone, Filippo Monelli, Patrizia Lazzari, Francesco Ascari, Guido Ligabue, Giovanni Guaraldi, Giuseppe Pezzuto, Petra Bechtold, Marco Massari, Ivana Lattuada, Francesco Luppi, Maria Giulia Galli, Pierpaolo Pattacini, Paolo Giorgi Rossi

Get full text

Temporal trends and treatment patterns in anal fissure management: insights from a multicenter study in Italy by Picciariello, A., Tutino, R., Gallo, G., Altomare, D. F., Pietroletti, R., Dezi, A., Graziano, G., Grossi, U.

Get full text