Search Results - Béroud, Christophe

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  1. 1
    Hydrophobic pulses predict transmembrane helix irregularities and channel transmembrane units

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

    Published 2011
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  2. 2
    Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases

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

    Published 2012
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  3. 3
    Human Splicing Finder: an online bioinformatics tool to predict splicing signals

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

    Published 2009
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  4. 4
    Methods and Tools for Assessing the Impact of Genetic Variations: The 2017 Annual Scientific Meeting of the Human Genome Variation Society

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

    Published 2018
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  5. 5
    VarAFT: a variant annotation and filtration system for human next generation sequencing data

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

    Published 2018
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  6. 6
    Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma

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

    Published 2007
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  7. 7
    Non-Coding Variation: The 2016 Annual Scientific Meeting of the Human Genome Variation Society

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

    Published 2017
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  8. 8
    Large genomic rearrangements in the CFTR gene contribute to CBAVD

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

    Published 2007
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  9. 9
    Correction: Dispelling myths about rare disease registry system development

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

    Published 2014
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  10. 10
    Dispelling myths about rare disease registry system development

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

    Published 2013
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  11. 11
    Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

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

    Published 2015
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  12. 12
    Enrichment, Immunomorphological, and Genetic Characterization of Fetal Cells Circulating in Maternal Blood

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

    Published 2002
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  13. 13
    UMD‐Predictor: A High‐Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

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

    Published 2016
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  14. 14
    The French National Registry of patients with Facioscapulohumeral muscular dystrophy

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

    Published 2018
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  15. 15
    UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families

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

    Published 2013
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  16. 16
    Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

    Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men by 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.

    Published 2018
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  17. 17
    Single-cell genetic analysis validates cytopathological identification of circulating cancer cells in patients with clear cell renal cell carcinoma

    Single-cell genetic analysis validates cytopathological identification of circulating cancer cells in patients with clear cell renal cell carcinoma by 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

    Published 2018
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  18. 18
    Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

    Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases by 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

    Published 2015
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  19. 19
    Diagnostic approach to the congenital muscular dystrophies

    Diagnostic approach to the congenital muscular dystrophies by 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.

    Published 2014
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  20. 20
    Hox-dependent coordination of mouse cardiac progenitor cell patterning and differentiation

    Hox-dependent coordination of mouse cardiac progenitor cell patterning and differentiation by 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

    Published 2020
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