Хайлтын үр дүнгүүд - Cerino, Mathieu

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

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

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

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

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

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

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

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Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population -н 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.

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Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency -н 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.

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A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing -н 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

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