Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Céline Gomes"'
Autor:
Martine Raynaud, L. Van Maldergem, Bernard Aral, Lydie Burglen, Tania Attié-Bitach, R. Touraine, Sylvie Rossignol, Martine Sinico, Laurence Faivre, Sophie Thomas, Christel Thauvin-Robinet, Catherine Badens, Brunella Franco, Estelle Escudier, Nathalie Boddaert, Hélène Dollfus, Michel Vekemans, Nadège Gigot, Arnold Munnich, Estelle Lopez, Cathy Philippe, Céline Gomes, Férechté Encha-Razavi, Stanislas Lyonnet, Nadia Elkhartoufi
Publikováno v:
Clinical Genetics. 84:86-90
Autor:
S. Kitsiou Tzeli, Hülya Kayserili, L. Giordano, B. Rodriguez, P. Collignon, V. Sabolic Avramovska, Silvana Briuglia, Christopher A. Walsh, Laila Bastaki, Amy Goldstein, Francesca Faravelli, F. Papadia, A. Permunian, Alessandro Simonati, S. Halldorsson, Gian Marco Ghiggeri, David G. Brooks, Clara Barbot, Kathryn J. Swoboda, Chiara Pantaleoni, O. D'Addato, Jason W. Caldwell, Maria Roberta Cilio, Soumaya Mougou-Zerelli, M. Vascotto, Andreas Zankl, Gaetano Tortorella, Julia Tantau, Elliott H. Sherr, Patrizia Accorsi, Maurizio Genuardi, Carmelo Salpietro, G. Marra, Pierangela Castorina, Petter Strømme, J. Johannsdottir, Bruno Dallapiccola, Kenton R. Holden, Donatella Greco, Maria Spanò, Pasquale Parisi, Roberta Battini, Paola Grammatico, P. Ludvigsson, Dorit Lev, Daria Riva, C. Ae Kim, WB Dobyns, L. Martorell Sampol, Robert P. Cruse, H. Raynes, Sabrina Signorini, A. Seward, Raoul C.M. Hennekam, Elena Andreucci, Manuela Priolo, Banu Anlar, Bernard Stuart, Christopher P. Bennett, S. Comu, Christopher Geoffrey Woods, Vlatka Mejaški-Bošnjak, J. Milisa, Eamonn Sheridan, Melissa Lees, C. Moco, Ender Karaca, Miriam Iannicelli, Annalisa Mazzotta, C. Dacou-Voutetakis, Tania Attié-Bitach, Philippe Loget, D. Petkovic, L. Demerleir, Loredana Boccone, Meriem Tazir, Kalpathy S. Krishnamoorthy, Damir Lončarević, Dominika Swistun, Yves Sznajer, Stefano D'Arrigo, Ginevra Zanni, Angela Barnicoat, Marina Michelson, L. I. Al Gazali, Vincenzo Leuzzi, G. Uziel, A. Adami, B. Gener Querol, V. Udani, M. Di Giacomo, Maryse Bonnière, Enrico Bertini, K. Dias, Edward Blair, Johannes M. Penzien, M. Cazzagon, Susana Quijano-Roy, Trine Prescott, Barbara Scelsa, Giuseppina Vitiello, Francesco Brancati, Gilda Stringini, Trudy McKanna, Roser Pons, Renato Borgatti, M. Gentile, Dean Sarco, C. Von Der Lippe, Eugen Boltshauser, Luigina Spaccini, A. Pessagno, Alex Magee, Marilena Briguglio, Margherita Silengo, Lena Starck, M. L. Di Sabato, Roshan Koul, Nicole I. Wolf, A. M. Laverda, Elizabeth Flori, Clotilde Lagier-Tourenne, A. Matuleviciene, Matloob Azam, Kathrin Ludwig, Ghada M H Abdel-Salam, Atıl Yüksel, Johannes R. Lemke, Stefania Bigoni, Elizabeth Said, Anna Rajab, Mary Kay Koenig, Andreas R. Janecke, Asma A. Al-Tawari, Agnese Suppiej, Henry Sanchez, Wendy K. Chung, P. Guanciali, Heike Philippi, Silvia Majore, E. DeMarco, J. Hahn, Gianluca Caridi, Marc D'Hooghe, M. M. De Jong, M. Akcakus, Franco Stanzial, Silvia Battaglia, Gian Luigi Ardissino, Giangennaro Coppola, Jane A. Hurst, Terry D. Sanger, Alessandra Renieri, Nadia Elkhartoufi, Rita Fischetto, Alex E. Clark, S. Strozzi, S. Romano, Alain Verloes, Marzia Pollazzon, Elisa Fazzi, L. Yates, Faustina Lalatta, Sabine Sigaudy, Alessandra D'Amico, Brigitte Leroy, Joel Victor Fluss, David Viskochil, Alice Abdel-Aleem, Darryl C. De Vivo, Padraic Grattan-Smith, Corrado Romano, D. Nicholl, Regine Schubert, A. Moreira, Claudia Izzi, Barbara Gentilin, Gustavo Maegawa, Céline Gomes, László Sztriha, C. Donahue, Luciana Rigoli, Jean Messer, Sophie Thomas, E. Del Giudice, R. Van Coster, André Mégarbané, Ignacio Pascual-Castroviejo, Alessandra Ferlini, Topcu, R. Touraine, Ginevra Guanti, Lorena Travaglini, L. Ali Pacha, R. De Vescovi, Enza Maria Valente, Filippo Bernardi, L. Carr, Shubha R. Phadke, S. Bernes, Maria Teresa Divizia, C. Daugherty, M. Akgul, C. Macaluso, Maha S. Zaki, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, F. McKay, Maria Amorini, Joseph G. Gleeson, F. Benedicenti, Bruria Ben-Zeev, Carla Uggetti, R. Romoli, Richard J. Leventer, Francesco Emma, T. E. Gallager, P. De Lonlay, Marco Seri, Bernard L. Maria, M.A. Donati, Bosanka Jocic-Jakubi
Publikováno v:
International JSRD Study Group 2010, ' Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies ', Human Mutation, vol. 31, no. 5, pp. E1319-E1331 . https://doi.org/10.1002/humu.21239
Human Mutation, 31(5), E1319-E1331. Wiley-Liss Inc.
Human Mutation, 31(5), E1319-E1331. Wiley-Liss Inc.
Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genet
Autor:
Marie Hélène Saint Frison, Sophie Patrier, Elif Uz, Gülen Eda Utine, Valérie Cormier-Daire, Nicolas Goudin, Nadia Elkhartoufi, Gönöl Ogur, Nurten A. Akarsu, Stanislas Lyonnet, Daniela Buzas, Koray Boduroğlu, Mark Winey, Tania Attié-Bitach, L. Fertitta, Karlien L.M. Coene, Sophie Thomas, Christine Bole-Feysot, Christopher L. Bennett, Raoul C.M. Hennekam, Arnold Munnich, Philip L. Beales, Nicholas Katsanis, Marie Gonzales, Luc Rigonnot, Patrick Nitschke, Estelle Colin, Christel Thauvin-Robinet, Yasemin Alanay, Alain Schmitt, Michel Vekemans, Solenn Pruvost, Férechté Encha-Razavi, Jean Pierre Siffroi, Nicolas Cagnard, Erica E. Davis, Céline Gomes, N. Joye, Audrey Putoux
Publikováno v:
Nature genetics, 43(6), 601-606. Nature Publishing Group
Coene, Karlien/0000-0001-9873-1458; Alanay, Yasemin/0000-0003-0683-9731; THOMAS, Sophie/0000-0002-8569-3277; Lyonnet, Stanislas/0000-0001-5426-9417; Akarsu, Nurten/0000-0001-5432-0032; ATTIE-BITACH, Tania/0000-0002-1155-3626; Davis, Erica/0000-0002-2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::402df5b87e6a3306c82e6110a2f9ec89
http://hdl.handle.net/11655/14121
http://hdl.handle.net/11655/14121
Autor:
Celine Gomes da Silva Blotta
Publikováno v:
Biblioteca Digital de Teses e Dissertações da UERJUniversidade do Estado do Rio de JaneiroUERJ.
O principal objetivo dessa dissertação é analisar a participação do Brasil nas Comemorações Centenárias de Portugal realizadas no ano de 1940, pondo em evidência as relações entre política e cultura. Parte-se do pressuposto que a matriz c