Zobrazeno 1 - 10
of 589
pro vyhledávání: '"Clementi Maurizio"'
Autor:
Casarin Alberto, Giorgi Gianpietro, Pertegato Vanessa, Siviero Roberta, Cerqua Cristina, Doimo Mara, Basso Giuseppe, Sacconi Sabrina, Cassina Matteo, Rizzuto Rosario, Brosel Sonja, M Davidson Mercy, DiMauro Salvatore, Schon Eric A, Clementi Maurizio, Trevisson Eva, Salviati Leonardo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 21 (2012)
Abstract Background Mutations in SCO2 cause cytochrome c oxidase deficiency (COX) and a fatal infantile cardioencephalomyopathy. SCO2 encodes a protein involved in COX copper metabolism; supplementation with copper salts rescues the defect in patient
Externí odkaz:
https://doaj.org/article/ac915d6223bd4d07b6a01ec8d34fd9d8
Autor:
Renieri Alessandra, Prontera Paolo, Priolo Manuela, Patricelli Maria G, Melis Daniela, Mattina Teresa, Lapi Elisabetta, Garavelli Livia, Fischetto Rita, Ferrari Paola, Daolio Cecilia, Douzgou Sofia, Clementi Maurizio, Bonfante Aldo, Accadia Maria, Forzano Francesca, Faravelli Francesca, Dallapiccola Bruno, Digilio Maria C, Calcagnì Alessia, Belligni Elga, D'Addetta Ester V, Zucchetti Federica, Gumiero Barbara, Reymond Alexandre, Silengo Margherita, Loviglio Maria N, Selicorni Angelo, Fusco Carmela, Augello Bartolomeo, Micale Lucia, Mencarelli Maria A, Scarano Gioacchino, Monica Matteo, Toschi Benedetta, Turolla Licia, Vancini Alessandra, Zatterale Adriana, Gabrielli Orazio, Zelante Leopoldo, Merla Giuseppe
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 38 (2011)
Abstract Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies
Externí odkaz:
https://doaj.org/article/0b2ee9ff991e432f83dbcfe6be467e71
Autor:
Adan, Roger, Ando, Tetsuya, Baker, Jessica, Bergen, Andrew, Berrettini, Wade, Birgegård, Andreas, Boni, Claudette, Boraska Perica, Vesna, Brandt, Harry, Burghardt, Roland, Cassina, Matteo, Cesta, Carolyn, Clementi, Maurizio, Coleman, Joni, Cone, Roger, Courtet, Philippe, Crawford, Steven, Crow, Scott, Crowley, James, Danner, Unna, Davis, Oliver, de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece, Dick, Danielle, Dikeos, Dimitris, Dmitrzak-Weglarz, Monika, Docampo, Elisa, Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred, Finan, Chris, Fischer, Krista, Föcker, Manuel, Foretova, Lenka, Forzan, Monica, Franklin, Christopher, Gaspar, Héléna, Gonidakis, Fragiskos, Gorwood, Philip, Gratacos, Monica, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Halmi, Katherine, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske, Hendriks, Judith, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hilliard, Christopher, Hinney, Anke, Huckins, Laura, Hudson, James, Huemer, Julia, Imgart, Hartmut, Inoko, Hidetoshi, Jiménez-Murcia, Susana, Johnson, Craig, Jordan, Jenny, Juréus, Anders, Kalsi, Gursharan, Kaminska, Debora, Kaplan, Allan, Kaprio, Jaakko, Karhunen, Leila, Karwautz, Andreas, Kas, Martien, Kaye, Walter, Kennedy, James, Kennedy, Martin, Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl-Ri, Klump, Kelly, Knudsen, Gun Peggy, Koeleman, Bobby, Koubek, Doris, La Via, Maria, Landén, Mikael, Levitan, Robert, Li, Dong, Lichtenstein, Paul, Lilenfeld, Lisa, Lissowska, Jolanta, Magistretti, Pierre, Maj, Mario, Mannik, Katrin, Martin, Nicholas, McDevitt, Sara, McGuffin, Peter, Merl, Elisabeth, Metspalu, Andres, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, James, Mitchell, Karen, Monteleone, Palmiero, Monteleone, Alessio Maria, Mortensen, Preben, Munn-Chernoff, Melissa, Nacmias, Benedetta, Nilsson, Ida, Norring, Claes, Ntalla, Ioanna, O’Toole, Julie, Pantel, Jacques, Papezova, Hana, Parker, Richard, Rabionet, Raquel, Raevuori, Anu, Rajewski, Andrzej, Ramoz, Nicolas, Rayner, N. William, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripke, Stephan, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rybakowski, Filip, Santonastaso, Paolo, Scherag, André, Schmidt, Ulrike, Schork, Nicholas, Schosser, Alexandra, Seitz, Jochen, Slachtova, Lenka, Slagboom, P. Eline, Slof-Op’t Landt, Margarita, Slopien, Agnieszka, Smith, Tosha, Sorbi, Sandro, Strengman, Eric, Strober, Michael, Sullivan, Patrick, Szatkiewicz, Jin, Szeszenia-Dabrowska, Neonila, Tachmazidou, Ioanna, Tenconi, Elena, Thornton, Laura, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tziouvas, Konstantinos, van Elburg, Annemarie, van Furth, Eric, Wade, Tracey, Wagner, Gudrun, Walton, Esther, Watson, Hunna, Woodside, D. Blake, Yao, Shuyang, Yilmaz, Zeynep, Zeggini, Eleftheria, Zerwas, Stephanie, Zipfel, Stephan, Alfredsson, Lars, Andreassen, Ole, Aschauer, Harald, Barrett, Jeffrey, Bencko, Vladimir, Carlberg, Laura, Cichon, Sven, Cohen-Woods, Sarah, Dina, Christian, Ding, Bo, Espeseth, Thomas, Floyd, James, Gallinger, Steven, Gambaro, Giovanni, Giegling, Ina, Herms, Stefan, Janout, Vladimir, Julià, Antonio, Klareskog, Lars, Le Hellard, Stephanie, Leboyer, Marion, Lundervold, Astri, Marsal, Sara, Mattingsdal, Morten, Navratilova, Marie, Ophoff, Roel, Palotie, Aarno, Pinto, Dalila, Ripatti, Samuli, Rujescu, Dan, Scherer, Stephen, Scott, Laura, Sladek, Robert, Soranzo, Nicole, Southam, Lorraine, Steen, Vidar, Wichmann, H-Erich, Widen, Elisabeth, Breen, Gerome, Bulik, Cynthia, Kuja-Halkola, Ralf, Martin, Joanna, Lu, Yi, Hübel, Christopher, Almqvist, Catarina, Thornton, Laura M., Magnusson, Patrik K., Bulik, Cynthia M., Larsson, Henrik
Publikováno v:
In Biological Psychiatry 15 October 2019 86(8):577-586
Autor:
Parrozzani, Raffaele, Leonardi, Francesca, Frizziero, Luisa, Trevisson, Eva, Clementi, Maurizio, Pilotto, Elisabetta, Fusetti, Stefano, Miglionico, Giacomo, Midena, Edoardo
Publikováno v:
In Ophthalmology Retina August 2018 2(8):827-835
Autor:
Cassina, Matteo, Calò, Annapaola, Salviati, Leonardo, Alghisi, Alberta, Montaldi, Annamaria, Clementi, Maurizio
Publikováno v:
In European Journal of Obstetrics and Gynecology February 2018 221:23-27
Autor:
Cassina, Matteo, Cagnoli, Giulia A., Zuccarello, Daniela, Di Gianantonio, Elena, Clementi, Maurizio
Publikováno v:
In European Journal of Medical Genetics January 2017 60(1):22-31
Autor:
Collantoni, Enrico, Michelon, Silvia, Tenconi, Elena, Degortes, Daniela, Titton, Francesca, Manara, Renzo, Clementi, Maurizio, Pinato, Claudia, Forzan, Monica, Cassina, Matteo, Santonastaso, Paolo, Favaro, Angela
Publikováno v:
In Psychiatry Research: Neuroimaging 30 January 2016 247:9-16
Autor:
Favaro, Angela, Manara, Renzo, Pievani, Michela, Clementi, Maurizio, Forzan, Monica, Bruson, Alice, Tenconi, Elena, Degortes, Daniela, Pinato, Claudia, Giannunzio, Valeria, Battista Frisoni, Giovanni, Santonastaso, Paolo
Publikováno v:
In Psychiatry Research: Neuroimaging 30 August 2014 223(2):157-163
Autor:
Cassina, Matteo, Dilaghi, Arianna, Di Gianantonio, Elena, Cesari, Elena, De Santis, Marco, Mannaioni, Guido, Pistelli, Alessandra, Clementi, Maurizio
Publikováno v:
In Reproductive Toxicology August 2013 39:50-57
Publikováno v:
In Reproductive Toxicology September 2012 34(2):186-191