検索結果 - Feingold, Josué

Identifying modifier genes of monogenic disease: strategies and difficulties 著者: Genin, Emmanuelle, Feingold, Josué, Clerget-Darpoux, Françoise

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Long-term outcome of presymptomatic testing in Huntington disease 著者: Gargiulo, Marcela, Lejeune, Séverine, Tanguy, Marie-Laure, Lahlou-Laforêt, Khadija, Faudet, Anne, Cohen, David, Feingold, Josué, Durr, Alexandra

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Involvement of the Modifier Gene of a Human Mendelian Disorder in a Negative Selection Process 著者: Jéru, Isabelle, Hayrapetyan, Hasmik, Duquesnoy, Philippe, Cochet, Emmanuelle, Serre, Jean-Louis, Feingold, Josué, Grateau, Gilles, Sarkisian, Tamara, Jeanpierre, Marc, Amselem, Serge

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Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France 著者: Rey, Françoise, Berthelon, Monique, Caillaud, Catherine, Lyonnet, Stanislas, Abadie, Véronique, Blandin-Savoja, Félicienne, Feingold, Josué, Saudubray, Jean-Marie, Frézal, Jean, Munnich, Arnold, Rey, Jean

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Glucocorticoid receptor gene polymorphisms associated with progression of lung disease in young patients with cystic fibrosis 著者: Corvol, Harriet, Nathan, Nadia, Charlier, Celine, Chadelat, Katarina, Le Rouzic, Philippe, Tabary, Olivier, Fauroux, Brigitte, Henrion-Caude, Alexandra, Feingold, Josue, Boelle, Pierre-Yves, Clement, Annick

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Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients 著者: Lorenz, Delia, Klebe, Stephan, Stevanin, Giovanni, Thier, Sandra, Nebel, Almut, Feingold, Josué, Frederiksen, Henrik, Denis, Elodie, Christensen, Kaare, Schreiber, Stefan, Brice, Alexis, Deuschl, Günther, Dürr, Alexandra

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Early Energy Deficit in Huntington Disease: Identification of a Plasma Biomarker Traceable during Disease Progression 著者: Mochel, Fanny, Charles, Perrine, Seguin, François, Barritault, Julie, Coussieu, Christiane, Perin, Laurence, Le Bouc, Yves, Gervais, Christiane, Carcelain, Guislaine, Vassault, Anne, Feingold, Josué, Rabier, Daniel, Durr, Alexandra

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rs5888 Variant of SCARB1 Gene Is a Possible Susceptibility Factor for Age-Related Macular Degeneration 著者: Zerbib, Jennyfer, Seddon, Johanna M., Richard, Florence, Reynolds, Robyn, Leveziel, Nicolas, Benlian, Pascale, Borel, Patrick, Feingold, Josué, Munnich, Arnold, Soubrane, Gisèle, Kaplan, Josseline, Rozet, Jean-Michel, Souied, Eric H.

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Genetic association study of mitochondrial polymorphisms in neovascular age-related macular degeneration 著者: Tilleul, Julien, Richard, Florence, Puche, Nathalie, Zerbib, Jennyfer, Leveziel, Nicolas, Sahel, Jose Alain, Cohen, Salomon Yves, Korobelnik, Jean-Francois, Feingold, Josue, Munnich, Arnold, Kaplan, Josseline, Rozet, Jean-Michel, Souied, Eric H.

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Segregation of mtDNA Throughout Human Embryofetal Development: m.3243A > G as a Model System 著者: Monnot, Sophie, Gigarel, Nadine, Samuels, David C, Burlet, Philippe, Hesters, Laetitia, Frydman, Nelly, Frydman, René, Kerbrat, Violaine, Funalot, Benoit, Martinovic, Jelena, Benachi, Alexandra, Feingold, Josué, Munnich, Arnold, Bonnefont, Jean-Paul, Steffann, Julie

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Poor Correlations in the Levels of Pathogenic Mitochondrial DNA Mutations in Polar Bodies versus Oocytes and Blastomeres in Humans 著者: Gigarel, Nadine, Hesters, Laetitia, Samuels, David C., Monnot, Sophie, Burlet, Philippe, Kerbrat, Violaine, Lamazou, Frédéric, Benachi, Alexandra, Frydman, René, Feingold, Josué, Rotig, Agnes, Munnich, Arnold, Bonnefont, Jean-Paul, Frydman, Nelly, Steffann, Julie

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Anonymous Marker Loci within 400 kb of HLA-A Generate Haplotypes in Linkage Disequilibrium with the Hemochromatosis Gene (HFE) 著者: Yaouanq, Jacqueline, Perichon, Muriel, Chorney, Michael, Pontarotti, Pierre, Le Treut, André, El Kahloun, Abdel, Mauvieux, Valérie, Blayau, Martine, Jouanolle, Anne Marie, Chauvel, Bruno, Moirand, Romain, Nouel, Olivier, Le Gall, Jean Yves, Feingold, Josué, David, Véronique

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Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy 著者: Cartault, François, Munier, Patrick, Benko, Edgar, Desguerre, Isabelle, Hanein, Sylvain, Boddaert, Nathalie, Bandiera, Simonetta, Vellayoudom, Jeanine, Krejbich-Trotot, Pascale, Bintner, Marc, Hoarau, Jean-Jacques, Girard, Muriel, Génin, Emmanuelle, de Lonlay, Pascale, Fourmaintraux, Alain, Naville, Magali, Rodriguez, Diana, Feingold, Josué, Renouil, Michel, Munnich, Arnold, Westhof, Eric, Fähling, Michael, Lyonnet, Stanislas, Henrion-Caude, Alexandra

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