检索结果 - Béroud, Christophe

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

Diagnostic approach to the congenital muscular dystrophies 由 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.

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文