Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Ravelli, Claudia"'
Akademický článek
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Akademický článek
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Autor:
Volpe, Joseph J., Posner, John, Kellner, Ulrich, Quinlivan, Rosaline, Daron, Aurore, Delstanche, Stéphanie, Bruninx, Romain, Dal Farra, Fabian, Schneider, Olivier, Deconinck, Nicolas, Balikova, Irina, Delbeke, Patricia, Joniau, Inge, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, Goemans, Nathalie, Casteels, Ingele, De Waele, Liesbeth, Cassiman, Catherine, Prové, Lies, Kinoo, David, Vancampenhout, Lisa, Van Den Hauwe, Marleen, Van Impe, Annelies, Prufer de Queiroz Campos Araujo, Alexandra, Chacon Pereira, Aline, Nardes, Flávia, Haefeli, Lorena, Rossetto, Julia, Ferreira Rebel, Marcos, Almeida Pereira, Jaqueline, Campbell, Craig, Sharan, Sapna, McDonald, Wendy, Scholtes, Cheryl, Mah, Jean, Sframeli, Maria, Chiu, Angela, Hagel, Jane, Oskoui, Maryam, Beneish, Raquel, Cariou-Palmer, Gaela, Pham, Connie, Toffoli, Daniela, Arpin, Stephanie, Turgeon Desilets, Sarah, Wang, Yi, Hu, Chaoping, Huan, Jianfeng, Qian, Chen, Shen, Li, Xiao, Ying, Zhou, Zhenxuan, Li, Hui, Wang, Sujuan, Xiong, Hui, Chang, Xingzhi, Dong, Hui, Liu, Ying, Sang, Tian, Wei, Cuijie, Wen, Jing, Cao, Yiwen, Ly, Xingyao, Zhao, Jingjing, Li, Wenzhu, Qin, Lun, Barisic, Nina, Galiot Delic, Martina, Ivkic, Petra Kristina, Vukojevic, Nenad, Kern, Ivana, Najdanovic, Boris, Skugor, Marin, Servais, Laurent, Boespflug-Tanguy, Odile, Gidaro, Teresa, Seferian, Andreea, De Lucia, Silvana, Barreau, Emmanuel, Mnafek, Nabila, Momtchilova, Marta Milkova, Peche, Helene, Valherie, Carole, Grange, Allison, Lilien, Charlotte, Milascevic, Darko, Tachibana, Shotaro, Ravelli, Claudia, Cardas, Ruxandra, Taytard, Jessica, Aubertin, Guillaume, Vanden Brande, Laure, Davion, Jean-Baptiste, Coopman, Stephanie, Bouacha, Ikram, Debruyne, Philippe, Defoort, Sabine, Derlyn, Gilles, Leroy, Florian, Danjoux, Loïc, Guilbaud, Julie, Desguerre, Isabelle, Barnérias, Christine, Semeraro, Michaela, Bremond-Gignac, Dominique, Bruere, Lenaic, Rateaux, Maxence, Deladrière, Élodie, Germa, Virginie, Pereon, Yann, Mercie, Sandra, Billaud, Fanny, Le Goff, Lucie, Letellier, Guy, Vuillerot, Carole, Portefaix, Aurélie, De-Montferrand, Camille, Le-Goff, Laure, Fontaine, Stephanie, Saidi, Manel, Bouzid, Nabil, Barriere, Aurélie, Tinat, Marie, Kirschner, Janbernd, Dreesbach, Michelle, Lagréze, Wolf, Michaelis, Bettina, Molnar, Fanni, Seger, Dorina, Vogt, Sibylle, Bertini, Enrico, D'Amico, Adele, Petroni, Sergio, Bonetti, Anna Maria, Carlesi, Adelina, Mizzoni, Irene, Bruno, Claudio, Priolo, Enrico, Rao, Giuseppe, Morando, Simone, Tacchetti, Paola, Zuffi, Ambra, Comi, Giacomo Pietro, Brusa, Roberta, Corti, Stefania, Daniele, Velardo, Govoni, Alessandra, Magri, Francesca, Minorini, Valeria, Osnaghi, Silvia Gabriella, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amaqlia, Meneri, Megi, Zoppas, Francesca, Parente, Valeria, Baranello, Giovanni, Masson, Riccardo, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Arnoldi, Maria Teresa, Vigano, Marta, Zanin, Riccardo, Mercuri, Eugenio, Antonaci, Laura, de Sanctis, Roberto, Pane, Marika, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Gugliemo, Orazi, Lorenzo, Coratti, Giorgia, Haginoya, Kazuhiro, Kato, Atsuko, Morishita, Yuko, Kira, Ryutaro, Akiyama, Kiyomu, Goto, Miwako, Mori, Yujiro, Okamoto, Misato, Tsutsui, Saki, Takatsuji, Yuta, Tanaka, Aya, Komaki, Hirofumi, Omori, Miina, Suzuki, Ippei, Takeuchi, Mizuki, Todoroki, Daisuke, Watanabe, Seji, Matsubayashi, Tomoko, Inakazu, Emi, Nagura, Hiroe, Suzuki, Akira, Usui, Manami, Ishikawa, Nobutsune, Harada, Yousuke, Fudeyasu, Kenishi, Hirata, Kazuhiko, Michiue, Kana, Ueda, Kazuyuki, Saito, Kayoko, Fujitani, Junko, Arakawa, Reiko, Takano, Kozue, Yashiro, Shigeko, Seki, Maiko, Sano, Nozomi, Fukuyama, Koji, Matsumoto, Yuki, Miyazaki, Hirofumi, Shibata, Minoru, Kobayashi, Kyoko, Nakamura, Yukie, Takeshima, Yasuhiro, Kuma, Moe, Kostera-Pruszczyk, Anna, Fraczek, Anna, Jedrzejowska, Maria, Lusakowska, Anna, Czeszyk-Piotrowicz, Agnieszka, Hautz, Wojciech, Rakusiewicz, Klaudia, Burlewicz, Malgorzata, Gierlak-Wojcicka, Zuzanna, Kepa, Malwina, Sikorski, Adam, Sobieraj, Marcin, Mazurkiewicz-Beldzinska, Maria, Lemska, Anna, Modrzejewska, Sandra, Koberda, Mateusz, Stodolska-Koberda, Urszula, Waskowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Steinborn, Barbara, Dalz, Magdalena, Grabowska, Julia, Hajduk, Wojciech, Janasiewicz-Karachitos, Justyna, Klimas, Monika, Stopa, Marcin, Gajewska, Ewa, Pusz, Beata, Vlodavets, Dmitry, Melnik, Evgenia, Leppenen, Natalya, Yupatova, Nataliya, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Milic Rasic, Vedrana, Brankovic, Vesna, Kosac, Ana, Djokic, Olivera, Jakšic, Vesna, Pepic, Ana, Martinovic, Jelena, Munell Casadesus, Francina, Tizzano, Eduardo, Martín Begué, Nieves, Wolley Dod, Charlotte, Subira, Olaia, Planas Pascual, Bernat, Toro Tamargo, Esther, Madruga Garrido, Marcos, Medina Romero, José David, Salinas, Marta Peña, Nascimento Osorio, Andrés, Díaz Cortés, Ana, Jiménez Gañan, Enrique, Suh, Simone Dowon, Medina Cantillo, Julita, Moya, Obdulia, Padros, Nuria, Urraca, Sandra Roca, Valdivia, Hugo Gonzalez, Pascual Pascual, Samuel, de Manuel, Sofía, Martin, Susana Noval, Burnham, Paul, Espinosa, Sandra, Moreno, Mercedes Martinez, Topaloglu, Haluk, Oncel, Ibrahim, Eroglu Ertugru, Nesibe, Konuskan, Bahadir, Eldem, Bora, Kadayifçilar, Sibel, Alemdaroglu, Ipek, Karaduman, Aynur Ayse, Yilmaz, Oznur Tunca, Bilgin, Neslihan, Sari, Seher, Chiriboga, Claudia, Lee, John J., Rome-Martin, Donnielle, Day, John W., Beres, Shannon, Duong, Tina, Gee, Richard, Dunaway Young, Sally, Fuerst-Recktenwald, Sabine, Marquet, Anne, Muelhardt, Nicoletta, Trundell, Dylan, Mazzone, Elena S, Nascimento, Andres, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Staunton, Hannah, Yeung, Wai Yin, Martin, Carmen, Fontoura, Paulo, Day, John W
Publikováno v:
In The Lancet Neurology January 2022 21(1):42-52
Autor:
Domínguez Carral, Jana, Reinhard, Carola, Ebrahimi-Fakhari, Darius, Dorison, Nathalie, Galosi, Serena, Garone, Giacomo, Malenica, Masa, Ravelli, Claudia, Serdaroglu, Esra, van de Pol, Laura A., Koy, Anne, Leuzzi, Vincenzo, Roubertie, Agathe, Lin, Jean-Pierre, Doummar, Diane, Cif, Laura, Ortigoza-Escobar, Juan Darío
Publikováno v:
Frontiers in Neurology; 2024, p1-11, 11p
Autor:
Sorrentino, Ugo, Boesch, Sylvia, Doummar, Diane, Ravelli, Claudia, Serranova, Tereza, Indelicato, Elisabetta, Winkelmann, Juliane, Burglen, Lydie, Jech, Robert, Zech, Michael
Publikováno v:
Journal of Neurology; May2024, Vol. 271 Issue 5, p2859-2865, 7p
Autor:
Loussouarn, Anna, Doummar, Diane, Beaugendre, Yara, Bienvenu, Thierry, Charles, Perrine, Depienne, Christel, Dorison, Nathalie, Heide, Solveig, Héron, Delphine, Ioos, Christine, Keren, Boris, Métreau, Julia, Mochel, Fanny, Moutard, Marie-Laure, Ravelli, Claudia, Apartis, Emmanuelle, Mignot, Cyril
Publikováno v:
In European Journal of Paediatric Neurology September 2021 34:62-66
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Ghosh, Arunabha, Héron, Bénédicte, Donald, Aimee, Chang, Harriet, Furness, Laura, Movsesyan, Nina, Ravelli, Claudia, Jones, Simon, Wang, Raymond Y.
Publikováno v:
In Molecular Genetics and Metabolism February 2024 141(2)
Autor:
Blackburn, Patrick R., Ebstein, Frédéric, Hsieh, Tzung-Chien, Motta, Marialetizia, Radio, Francesca Clementina, Herkert, Johanna C., Rinne, Tuula, Thiffault, Isabelle, Rapp, Michele, Alders, Mariel, Maas, Saskia, Gerard, Bénédicte, Smol, Thomas, Vincent-Delorme, Catherine, Cogné, Benjamin, Isidor, Bertrand, Vincent, Marie, Bachmann-Gagescu, Ruxandra, Rauch, Anita, Joset, Pascal, Ferrero, Giovanni Battista, Ciolfi, Andrea, Husson, Thomas, Guerrot, Anne-Marie, Bacino, Carlos, Macmurdo, Colleen, Thompson, Stephanie S., Rosenfeld, Jill A., Faivre, Laurence, Mau-Them, Frederic Tran, Deb, Wallid, Vignard, Virginie, Agrawal, Pankaj B., Madden, Jill A., Goldenberg, Alice, Lecoquierre, François, Zech, Michael, Prokisch, Holger, Necpál, Ján, Jech, Robert, Winkelmann, Juliane, Koprušáková, Monika Turčanová, Konstantopoulou, Vassiliki, Younce, John R., Shinawi, Marwan, Mighton, Chloe, Fung, Charlotte, Morel, Chantal, Ellis, Jordan Lerner, DiTroia, Stephanie, Barth, Magalie, Bonneau, Dominique, Krapels, Ingrid, Stegmann, Sander, van der Schoot, Vyne, Brunet, Theresa, Bußmann, Cornelia, Mignot, Cyril, Courtin, Thomas, Ravelli, Claudia, Keren, Boris, Ziegler, Alban, Hasadsri, Linda, Pichurin, Pavel N., Klee, Eric W., Grand, Katheryn, Sanchez-Lara, Pedro A., Krüger, Elke, Bézieau, Stéphane, Klinkhammer, Hannah, Krawitz, Peter Michael, Eichler, Evan E., Tartaglia, Marco, Küry, Sébastien, Wang, Tianyun
Publikováno v:
medRxiv
PURPOSE: De novo variants in CUL3 (Cullin-3 ubiquitin ligase) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here we aimed to collect sporadic cases carrying rare variants i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::711634224e898ea50169a8036a69a961
https://europepmc.org/articles/PMC10312857/
https://europepmc.org/articles/PMC10312857/
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.