Suchergebnisse - Béroud, Christophe

Hydrophobic pulses predict transmembrane helix irregularities and channel transmembrane units von Paulet, Damien, Claustres, Mireille, Béroud, Christophe

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Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases von Caputo, Sandrine, Benboudjema, Louisa, Sinilnikova, Olga, Rouleau, Etienne, Béroud, Christophe, Lidereau, Rosette

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals von Desmet, François-Olivier, Hamroun, Dalil, Lalande, Marine, Collod-Béroud, Gwenaëlle, Claustres, Mireille, Béroud, Christophe

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Methods and Tools for Assessing the Impact of Genetic Variations: The 2017 Annual Scientific Meeting of the Human Genome Variation Society von Oetting, William S., Béroud, Christophe, Brenner, Steven E., Greenblatt, Marc S., Karchin, Rachel, Mooney, Sean D.

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VarAFT: a variant annotation and filtration system for human next generation sequencing data von Desvignes, Jean-Pierre, Bartoli, Marc, Delague, Valérie, Krahn, Martin, Miltgen, Morgane, Béroud, Christophe, Salgado, David

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Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma von Charbotel, Barbara, Gad, Sophie, Caïola, Delphine, Béroud, Christophe, Fevotte, Joelle, Bergeret, Alain, Ferlicot, Sophie, Richard, Stéphane

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Non-Coding Variation: The 2016 Annual Scientific Meeting of the Human Genome Variation Society von Oetting, William S., Béroud, Christophe, Brenner, Steven E., Greenblatt, Marc, Karchin, Rachel, Mooney, Sean D., Sunyaev, Shamir

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Large genomic rearrangements in the CFTR gene contribute to CBAVD von Taulan, Magali, Girardet, Anne, Guittard, Caroline, Altieri, Jean-Pierre, Templin, Carine, Beroud, Christophe, des Georges, Marie, Claustres, Mireille

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Correction: Dispelling myths about rare disease registry system development von Bellgard, Matthew, Beroud, Christophe, Parkinson, Kay, Harris, Tess, Ayme, Segolene, Baynam, Gareth, Weeramanthri, Tarun, Dawkins, Hugh, Hunter, Adam

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Dispelling myths about rare disease registry system development von Bellgard, Matthew, Beroud, Christophe, Parkinson, Kay, Harris, Tess, Ayme, Segolene, Baynam, Gareth, Weeramanthri, Tarun, Dawkins, Hugh, Hunter, Adam

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Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders von Gorokhova, Svetlana, Cerino, Mathieu, Mathieu, Yves, Courrier, Sébastien, Desvignes, Jean-Pierre, Salgado, David, Béroud, Christophe, Krahn, Martin, Bartoli, Marc

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Enrichment, Immunomorphological, and Genetic Characterization of Fetal Cells Circulating in Maternal Blood von Vona, Giovanna, Béroud, Christophe, Benachi, Alexandra, Quenette, Alice, Bonnefont, Jean Paul, Romana, Serge, Dumez, Yves, Lacour, Bernard, Paterlini-Bréchot, Patrizia

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UMD‐Predictor: A High‐Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution von Salgado, David, Desvignes, Jean‐Pierre, Rai, Ghadi, Blanchard, Arnaud, Miltgen, Morgane, Pinard, Amélie, Lévy, Nicolas, Collod‐Béroud, Gwenaëlle, Béroud, Christophe

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The French National Registry of patients with Facioscapulohumeral muscular dystrophy von Guien, Céline, Blandin, Gaëlle, Lahaut, Pauline, Sanson, Benoît, Nehal, Katia, Rabarimeriarijaona, Sitraka, Bernard, Rafaëlle, Lévy, Nicolas, Sacconi, Sabrina, Béroud, Christophe

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UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families von Grandval, Philippe, Fabre, Aurélie J., Gaildrat, Pascaline, Baert-Desurmont, Stéphanie, Buisine, Marie-Pierre, Ferrari, Anthony, Wang, Qing, Béroud, Christophe, Olschwang, Sylviane

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Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men von Auguste, Yasmina, Delague, Valérie, Desvignes, Jean-Pierre, Longepied, Guy, Gnisci, Audrey, Besnier, Pierre, Levy, Nicolas, Beroud, Christophe, Megarbane, André, Metzler-Guillemain, Catherine, Mitchell, Michael J.

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Single-cell genetic analysis validates cytopathological identification of circulating cancer cells in patients with clear cell renal cell carcinoma von Broncy, Lucile, Njima, Basma Ben, Méjean, Arnaud, Béroud, Christophe, Romdhane, Khaled Ben, Ilie, Marius, Hofman, Veronique, Muret, Jane, Hofman, Paul, Bouhamed, Habiba Chaabouni, Paterlini-Bréchot, and Patrizia

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Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases von Nelson, Isabelle, Stojkovic, Tanya, Allamand, Valérie, Leturcq, France, Bécane, Henri-Marc, Babuty, Dominique, Toutain, Annick, Béroud, Christophe, Richard, Pascale, Romero, Norma B., Eymard, Bruno, Ben Yaou, Rabah, Bonne, Gisèle

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Diagnostic approach to the congenital muscular dystrophies von Bönnemann, Carsten G., Wang, Ching H., Quijano-Roy, Susana, Deconinck, Nicolas, Bertini, Enrico, Ferreiro, Ana, Muntoni, Francesco, Sewry, Caroline, Béroud, Christophe, Mathews, Katherine D., Moore, Steven A., Bellini, Jonathan, Rutkowski, Anne, North, Kathryn N.

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Hox-dependent coordination of mouse cardiac progenitor cell patterning and differentiation von Stefanovic, Sonia, Laforest, Brigitte, Desvignes, Jean-Pierre, Lescroart, Fabienne, Argiro, Laurent, Maurel-Zaffran, Corinne, Salgado, David, Plaindoux, Elise, De Bono, Christopher, Pazur, Kristijan, Théveniau-Ruissy, Magali, Béroud, Christophe, Puceat, Michel, Gavalas, Anthony, Kelly, Robert G, Zaffran, Stephane

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