检索结果 - Giurgea, Irina 

Mowat-Wilson syndrome in a Moroccan consanguineous family 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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