Výsledky vyhledávání - Giurgea, Irina 

Mowat-Wilson syndrome in a Moroccan consanguineous family Autor Ratbi, Ilham, Elalaoui, Chafai Siham, Dastot-Le, Moal Florence, Goossens, Michel, Giurgea, Irina, Sefiani, Abdelaziz

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Mowat-Wilson syndrome: neurological and molecular study in seven patients Autor Paz, José Albino da, Kim, Chong Ae, Goossens, Michael, Giurgea, Irina, Marques-Dias, Maria Joaquina

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Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders Autor Mollet, Julie, Giurgea, Irina, Schlemmer, Dimitri, Dallner, Gustav, Chretien, Dominique, Delahodde, Agnès, Bacq, Delphine, de Lonlay, Pascale, Munnich, Arnold, Rötig, Agnès

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Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion Autor González-Barroso, M. Mar, Giurgea, Irina, Bouillaud, Fredéric, Anedda, Andrea, Bellanné-Chantelot, Christine, Hubert, Laurence, de Keyzer, Yves, de Lonlay, Pascale, Ricquier, Daniel

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Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome Autor Lebrun, Nicolas, Giurgea, Irina, Goldenberg, Alice, Dieux, Anne, Afenjar, Alexandra, Ghoumid, Jamal, Diebold, Bertrand, Mietton, Léo, Briand-Suleau, Audrey, Billuart, Pierre, Bienvenu, Thierry

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Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages Autor Jumeau, Claire, Awad, Fawaz, Assrawi, Eman, Cobret, Laetitia, Duquesnoy, Philippe, Giurgea, Irina, Valeyre, Dominique, Grateau, Gilles, Amselem, Serge, Bernaudin, Jean-François, Karabina, Sonia-Athina

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In familial Mediterranean fever, soluble TREM-1 plasma level is higher in case of amyloidosis Autor Gorlier, Clémence, Sellam, Jérémie, Laurans, Ludivine, Simon, Tabassome, Giurgea, Irina, Bastard, Jean-Philippe, Fellahi, Soraya, Deshayes, Samuel, Grateau, Gilles, Ait Oufella, Hafid, Georgin-Lavialle, Sophie

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Response to Letter to the Editor Autor Gorlier, Clémence, Sellam, Jérémie, Laurans, Ludivine, Simon, Tabassome, Giurgea, Irina, Bastard, Jean-Philippe, Fellahi, Soraya, Deshayes, Samuel, Grateau, Gilles, Oufella, Hafid Ait, Georgin-Lavialle, Sophie

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Extended spectrum of MBD5 mutations in neurodevelopmental disorders Autor Bonnet, Céline, Ali Khan, Asma, Bresso, Emmanuel, Vigouroux, Charlène, Béri, Mylène, Lejczak, Sarah, Deemer, Bénédicte, Andrieux, Joris, Philippe, Christophe, Moncla, Anne, Giurgea, Irina, Devignes, Marie-Dominique, Leheup, Bruno, Jonveaux, Philippe

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Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation Autor Awad, Fawaz, Assrawi, Eman, Jumeau, Claire, Georgin-Lavialle, Sophie, Cobret, Laetitia, Duquesnoy, Philippe, Piterboth, William, Thomas, Lucie, Stankovic-Stojanovic, Katia, Louvrier, Camille, Giurgea, Irina, Grateau, Gilles, Amselem, Serge, Karabina, Sonia-Athina

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Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C Autor Tosca, Lucie, Drévillon, Loïc, Mouka, Aurélie, Lecerf, Laure, Briand, Audrey, Ortonne, Valérie, Benoit, Virginie, Brisset, Sophie, Van Maldergem, Lionel, Laudouar, Quitterie, Heide, Solveig, Goossens, Michel, Giurgea, Irina, Tachdjian, Gérard, Métay, Corinne

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Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 Autor Bondurand, Nadege , Dastot-Le Moal, Florence , Stanchina, Laure , Collot, Nathalie , Baral, Viviane , Marlin, Sandrine , Attie-Bitach, Tania , Giurgea, Irina , Skopinski, Laurent , Reardon, William , Toutain, Annick , Sarda, Pierre , Echaieb, Anis , Lackmy-Port-Lis, Marilyn , Touraine, Renaud , Amiel, Jeanne , Goossens, Michel , Pingault, Veronique 

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Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11 Autor Wentzel, Christian, Rajcan-Separovic, Evica, Ruivenkamp, Claudia A L, Chantot-Bastaraud, Sandra, Metay, Corinne, Andrieux, Joris, Annerén, Göran, Gijsbers, Antoinet C J, Druart, Luc, Hyon, Capucine, Portnoi, Marie-France, Stattin, Eva-Lena, Vincent-Delorme, Catherine, Kant, Sarina G, Steinraths, Michelle, Marlin, Sandrine, Giurgea, Irina, Thuresson, Ann-Charlotte

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The NLRP3 p.A441V Mutation in NLRP3‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event Autor Awad, Fawaz, Assrawi, Eman, Jumeau, Claire, Odent, Sylvie, Despert, Veronique, Cam, Gérard, Perdriger, Aleth, Louvrier, Camille, Cobret, Laetitia, Copin, Bruno, Chantot‐Bastaraud, Sandra, Duquesnoy, Philippe, Piterboth, William, Le Jeunne, Claire, Quenum‐Miraillet, Genevieve, Siffroi, Jean Pierre, Georgin‐Lavialle, Sophie, Grateau, Gilles, Legendre, Marie, Giurgea, Irina, Karabina, Sonia‐Athina, Amselem, Serge

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Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis Autor Mary, Laura, Piton, Amélie, Schaefer, Elise, Mattioli, Francesca, Nourisson, Elsa, Feger, Claire, Redin, Claire, Barth, Magali, El Chehadeh, Salima, Colin, Estelle, Coubes, Christine, Faivre, Laurence, Flori, Elisabeth, Geneviève, David, Capri, Yline, Perrin, Laurence, Fabre-Teste, Jennifer, Timbolschi, Dana, Verloes, Alain, Olaso, Robert, Boland, Anne, Deleuze, Jean-François, Mandel, Jean-Louis, Gerard, Bénédicte, Giurgea, Irina

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BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects Autor Hilton, Emma, Johnston, Jennifer, Whalen, Sandra, Okamoto, Nobuhiko, Hatsukawa, Yoshikazu, Nishio, Juntaro, Kohara, Hiroshi, Hirano, Yoshiko, Mizuno, Seiji, Torii, Chiharu, Kosaki, Kenjiro, Manouvrier, Sylvie, Boute, Odile, Perveen, Rahat, Law, Caroline, Moore, Anthony, Fitzpatrick, David, Lemke, Johannes, Fellmann, Florence, Debray, François-Guillaume, Dastot-Le-Moal, Florence, Gerard, Marion, Martin, Josiane, Bitoun, Pierre, Goossens, Michel, Verloes, Alain, Schinzel, Albert, Bartholdi, Deborah, Bardakjian, Tanya, Hay, Beverly, Jenny, Kim, Johnston, Kathreen, Lyons, Michael, Belmont, John W, Biesecker, Leslie G, Giurgea, Irina, Black, Graeme

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