Hakutulokset - Béroud, Christophe

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Diagnostic approach to the congenital muscular dystrophies Tekijä 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.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti