檢索結果 - Calmels, Nadège

Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B 由 Damaj-Fourcade, Rayanne, Meyer, Nicolas, Obringer, Cathy, Le May, Nicolas, Calmels, Nadège, Laugel, Vincent

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Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome 由 Schalk, Audrey, Greff, Géraldine, Drouot, Nathalie, Obringer, Cathy, Dollfus, Hélène, Laugel, Vincent, Chelly, Jamel, Calmels, Nadège

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Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen 由 Calmels, Nadège, Seznec, Hervé, Villa, Pascal, Reutenauer, Laurence, Hibert, Marcel, Haiech, Jacques, Rustin, Pierre, Koenig, Michel, Puccio, Hélène

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Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome 由 Epanchintsev, Alexey, Rauschendorf, Marc-Alexander, Costanzo, Federico, Calmels, Nadege, Obringer, Cathy, Sarasin, Alain, Coin, Frederic, Laugel, Vincent, Egly, Jean-Marc

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The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia 由 Calmels, Nadège, Schmucker, Stéphane, Wattenhofer-Donzé, Marie, Martelli, Alain, Vaucamps, Nadège, Reutenauer, Laurence, Messaddeq, Nadia, Bouton, Cécile, Koenig, Michel, Puccio, Hélène

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Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations 由 Chikhaoui, Asma, Kraoua, Ichraf, Calmels, Nadège, Bouchoucha, Sami, Obringer, Cathy, Zayoud, Khouloud, Montagne, Benjamin, M’rad, Ridha, Abdelhak, Sonia, Laugel, Vincent, Ricchetti, Miria, Turki, Ilhem, Yacoub-Youssef, Houda

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Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B 由 Zayoud, Khouloud, Kraoua, Ichraf, Chikhaoui, Asma, Calmels, Nadège, Bouchoucha, Sami, Obringer, Cathy, Crochemore, Clément, Najjar, Dorra, Zarrouk, Sinda, Miladi, Najoua, Laugel, Vincent, Ricchetti, Miria, Turki, Ilhem, Yacoub-Youssef, Houda

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X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation 由 Barthélémy, Inès, Calmels, Nadège, Weiss, Robert B., Tiret, Laurent, Vulin, Adeline, Wein, Nicolas, Peccate, Cécile, Drougard, Carole, Beroud, Christophe, Deburgrave, Nathalie, Thibaud, Jean-Laurent, Escriou, Catherine, Punzón, Isabel, Garcia, Luis, Kaplan, Jean-Claude, Flanigan, Kevin M., Leturcq, France, Blot, Stéphane

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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing 由 Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Mandel, Jean-Louis, Laugel, Vincent

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