檢索結果 - Stoppa-Lyonnet, Dominique
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Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations 由 Jacquemin, Virginie, Rieunier, Guillaume, Jacob, Sandrine, Bellanger, Dorine, d'Enghien, Catherine Dubois, Laugé, Anthony, Stoppa-Lyonnet, Dominique, Stern, Marc-Henri
出版 2012Text -
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Recurrent FAN1 p.W707X Pathogenic Variant Originating Before ad 1800 Underlies High Frequency of Karyomegalic Interstitial Nephritis in South Pacific Islands 由 Gueguen, Lorraine, Delaval, Ronan, Blanluet, Maud, Sartelet, Hervé, Leou, Sylvie, Dubois d’Enghien, Catherine, Golmard, Lisa, Stoppa-Lyonnet, Dominique, Testevuide, Pascale, Faguer, Stanislas
出版 2021Text -
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Risk Estimation as a Decision-Making Tool for Genetic Analysis of the Breast Cancer Susceptibility Genes 由 Chang-Claude, Jenny, Becher, Heiko, Caligo, Maria, Eccles, Diana, Evans, Gareth, Haites, Neva, Hodgson, Shirley, Møller, Pål, Weber, Bernhard H. F., Stoppa-Lyonnet, Dominique
出版 1999Text -
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Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study 由 Caux-Moncoutier, Virginie, Pagès-Berhouet, Sabine, Michaux, Dorothée, Asselain, Bernard, Castéra, Laurent, De Pauw, Antoine, Buecher, Bruno, Gauthier-Villars, Marion, Stoppa-Lyonnet, Dominique, Houdayer, Claude
出版 2009Text -
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Mosaicism and prenatal diagnosis options: insights from retinoblastoma 由 Dehainault, Catherine, Golmard, Lisa, Millot, Gaël A, Charpin, Agathe, Laugé, Anthony, Tarabeux, Julien, Aerts, Isabelle, Cassoux, Nathalie, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Houdayer, Claude
出版 2017Text -
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Psychosocial problems in women attending French, German and Spanish genetics clinics before and after targeted or multigene testing results: an observational prospective study 由 Brédart, Anne, Kop, Jean-Luc, Dick, Julia, Cano, Alejandra, De Pauw, Antoine, Anota, Amélie, Brunet, Joan, Devilee, Peter, Stoppa-Lyonnet, Dominique, Schmutzler, Rita, Dolbeault, Sylvie
出版 2019Text -
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Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay 由 Castéra, Laurent, Dehainault, Catherine, Michaux, Dorothée, Lumbroso-Le Rouic, Livia, Aerts, Isabelle, Doz, Francois, Pelet, Anna, Couturier, Jérôme, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Houdayer, Claude
出版 2013Text -
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Ethical, Social and Economic Issues in Familial Breast Cancer: A Compilation of Views from the E.C. Biomed II Demonstration Project 由 Steel, Michael, Smyth, Elizabeth, Vasen, Hans, Eccles, Diana, Evans, Gareth, Møller, Pål, Hodgson, Shirley, Stoppa-Lyonnet, Dominique, Chang-Claude, Jenny, Caligo, Maria, Morrison, Patrick, Haites, Neva
出版 1999Text -
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ART-DeCo: easy tool for detection and characterization of cross-contamination of DNA samples in diagnostic next-generation sequencing analysis 由 Fiévet, Alice, Bernard, Virginie, Tenreiro, Henrique, Dehainault, Catherine, Girard, Elodie, Deshaies, Vivien, Hupe, Philippe, Delattre, Olivier, Stern, Marc-Henri, Stoppa-Lyonnet, Dominique, Golmard, Lisa, Houdayer, Claude
出版 2019Text