Rezultati pretrage - David, Vèronique
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A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis od Island, Marie-Laure, Jouanolle, Anne-Marie, Mosser, Annick, Deugnier, Yves, David, Véronique, Brissot, Pierre, Loréal, Olivier
Izdano 2009Tekst -
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Novel genes upregulated when NOTCH signalling is disrupted during hypothalamic development od Ratié, Leslie, Ware, Michelle, Barloy-Hubler, Frédérique, Romé, Hélène, Gicquel, Isabelle, Dubourg, Christèle, David, Véronique, Dupé, Valérie
Izdano 2013Tekst -
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PharmFrag: An Easy and Fast Multiplex Pharmacogenetics Assay to Simultaneously Analyze 9 Genetic Polymorphisms Involved in Response Variability of Anticancer Drugs od Bouvet, Régis, Verdier, Marie-Clémence, El Baroudi, Yahya, Galibert, Marie-Dominique, David, Véronique, Schutz, Sacha, Tron, Camille
Izdano 2020Tekst -
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Common Variants in the BMP2, BMP4, and HJV Genes of the Hepcidin Regulation Pathway Modulate HFE Hemochromatosis Penetrance od Milet, Jacqueline , Déhais, Valérie , Bourgain, Catherine , Jouanolle, Anne Marie , Mosser, Annick , Perrin, Michèle , Morcet, Jeff , Brissot, Pierre , David, Véronique , Deugnier, Yves , Mosser, Jean
Izdano 2007Tekst -
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The Full Spectrum of Holoprosencephaly-Associated Mutations within the ZIC2 Gene in Humans Predicts Loss-of-Function as the Predominant Disease Mechanism od Roessler, Erich, Lacbawan, Felicitas, Dubourg, Christèle, Paulussen, Aimee, Herbergs, Jos, Hehr, Ute, Bendavid, Claude, Zhou, Nan, Ouspenskaia, Maia, Bale, Sherri, Odent, Sylvie, David, Vèronique, Muenke, Maximilian
Izdano 2009Tekst -
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Analysis of Genotype-Phenotype Correlations in Human Holoprosencephaly od Solomon, Benjamin D., Mercier, Sandra, Vélez, Jorge I., Pineda-Alvarez, Daniel E., Wyllie, Adrian, Zhou, Nan, Dubourg, Christèle, David, Veronique, Odent, Sylvie, Roessler, Erich, Muenke, Maximilian
Izdano 2010Tekst -
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Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci od Morcel, Karine, Watrin, Tanguy, Pasquier, Laurent, Rochard, Lucie, Le Caignec, Cédric, Dubourg, Christèle, Loget, Philippe, Paniel, Bernard-Jean, Odent, Sylvie, David, Véronique, Pellerin, Isabelle, Bendavid, Claude, Guerrier, Daniel
Izdano 2011Tekst -
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NOTCH, a new signaling pathway implicated in holoprosencephaly od Dupé, Valérie, Rochard, Lucie, Mercier, Sandra, Le Pétillon, Yann, Gicquel, Isabelle, Bendavid, Claude, Bourrouillou, Georges, Kini, Usha, Thauvin-Robinet, Christel, Bohan, Timothy P., Odent, Sylvie, Dubourg, Christèle, David, Véronique
Izdano 2011Tekst -
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2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features? od Jaillard, Sylvie, Dubourg, Christèle, Gérard-Blanluet, Marion, Delahaye, Andrée, Pasquier, Laurent, Dupont, Céline, Henry, Catherine, Tabet, Anne-Claude, Lucas, Josette, Aboura, Azzedine, David, Véronique, Benzacken, Brigitte, Odent, Sylvie, Pipiras, Eva
Izdano 2009Tekst -
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Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings od Mouden, Charlotte, de Tayrac, Marie, Dubourg, Christèle, Rose, Sophie, Carré, Wilfrid, Hamdi-Rozé, Houda, Babron, Marie-Claude, Akloul, Linda, Héron-Longe, Bénédicte, Odent, Sylvie, Dupé, Valérie, Giet, Régis, David, Véronique
Izdano 2015Tekst -
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Pharmacogenetic—Whole blood and intracellular pharmacokinetic—Pharmacodynamic (PG-PK(2)-PD) relationship of tacrolimus in liver transplant recipients od Tron, Camille, Woillard, Jean-Baptiste, Houssel-Debry, Pauline, David, Véronique, Jezequel, Caroline, Rayar, Michel, Balakirouchenane, David, Blanchet, Benoit, Debord, Jean, Petitcollin, Antoine, Roussel, Mickaël, Verdier, Marie-Clémence, Bellissant, Eric, Lemaitre, Florian
Izdano 2020Tekst