Search Results - Cerino, Mathieu

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  1. 1
    A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports

    A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports by Gorokhov, Mark, Cerino, Mathieu, Mortreux, Jérémie, Riccardi, Florence, Lévy, Nicolas, Bartoli, Marc, Krahn, Martin, Gorokhova, Svetlana

    Published 2020
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  2. 2
    The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions

    The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions by Ballouhey, Océane, Courrier, Sébastien, Kergourlay, Virginie, Gorokhova, Svetlana, Cerino, Mathieu, Krahn, Martin, Lévy, Nicolas, Bartoli, Marc

    Published 2021
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  3. 3
    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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  4. 4
    Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy

    Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy by Cerino, Mathieu, Bartoli, Marc, Riccardi, Florence, Le Goanvic, Brigitte, Blanck, Véronique, Salvi, Alexandra, Lévy, Nicolas, Krahn, Martin, Choumert, Ariane

    Published 2020
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  5. 5
    Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy

    Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy by Cerino, Mathieu, Gorokhova, Svetlana, Béhin, Anthony, Urtizberea, Jon Andoni, Kergourlay, Virginie, Salvo, Eric, Bernard, Rafaëlle, Lévy, Nicolas, Bartoli, Marc, Krahn, Martin

    Published 2015
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  6. 6
    Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy

    Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy by Cerino, Mathieu, Di Meglio, Chloé, Albertini, Francesca, Audic, Frédérique, Riccardi, Florence, Boulay, Christophe, Philip, Nicole, Bartoli, Marc, Lévy, Nicolas, Krahn, Martin, Chabrol, Brigitte

    Published 2020
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  7. 7
    A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing

    A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing by Benquey, Thibaut, Pion, Emmanuelle, Cossée, Mireille, Krahn, Martin, Stojkovic, Tanya, Perrin, Aurélien, Cerino, Mathieu, Molon, Annamaria, Lia, Anne-Sophie, Magdelaine, Corinne, Francou, Bruno, Guiochon-Mantel, Anne, Malinge, Marie-Claire, Leguern, Eric, Lévy, Nicolas, Attarian, Shahram, Latour, Philippe, Bonello-Palot, Nathalie

    Published 2022
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  8. 8
    Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population

    Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population by Cerino, Mathieu, González-Hormazábal, Patricio, Abaji, Mario, Courrier, Sebastien, Puppo, Francesca, Mathieu, Yves, Trangulao, Alejandra, Earle, Nicholas, Castiglioni, Claudia, Díaz, Jorge, Campero, Mario, Hughes, Ricardo, Vargas, Carmen, Cortés, Rocío, Kleinsteuber, Karin, Acosta, Ignacio, Urtizberea, J. Andoni, Lévy, Nicolas, Bartoli, Marc, Krahn, Martin, Jara, Lilian, Caviedes, Pablo, Gorokhova, Svetlana, Bevilacqua, Jorge A.

    Published 2022
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  9. 9
    Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

    Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency by Ben Yaou, Rabah, Hubert, Aurélie, Nelson, Isabelle, Dahlqvist, Julia R., Gaist, David, Streichenberger, Nathalie, Beuvin, Maud, Krahn, Martin, Petiot, Philippe, Parisot, Frédéric, Michel, Fabrice, Malfatti, Edoardo, Romero, Norma, Carlier, Robert Yves, Eymard, Bruno, Labrune, Philippe, Duno, Morten, Krag, Thomas, Cerino, Mathieu, Bartoli, Marc, Bonne, Gisèle, Vissing, John, Laforet, Pascal, Petit, François M.

    Published 2017
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  10. 10
    A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

    A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing by Krahn, Martin, Biancalana, Valérie, Cerino, Mathieu, Perrin, Aurélien, Michel-Calemard, Laurence, Nectoux, Juliette, Leturcq, France, Bouchet-Séraphin, Céline, Acquaviva-Bourdain, Cécile, Campana-Salort, Emmanuelle, Molon, Annamaria, Urtizberea, Jon Andoni, Audic, Frédérique, Chabrol, Brigitte, Pouget, Jean, Froissart, Roseline, Melki, Judith, Rendu, John, Petit, François, Métay, Corinne, Seta, Nathalie, Sternberg, Damien, Fauré, Julien, Cossée, Mireille

    Published 2018
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