Ohcanbohtosat - Isabelle Creveaux

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  1. 1
    Pathological Implications of Receptor for Advanced Glycation End-Product (<i>AGER</i>) Gene Polymorphism

    Pathological Implications of Receptor for Advanced Glycation End-Product (<i>AGER</i>) Gene Polymorphism Dahkki Marine Serveaux-Dancer, Matthieu Jabaudon, Isabelle Creveaux, Corinne Belville, Raïko Blondonnet, Christelle Gross, Jean‐Michel Constantin, Loı̈c Blanchon, Vincent Sapin

    Almmustuhtton 2019
    Viečča ollesdeavstta
    Revisão
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  2. 2
    Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis

    Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis Dahkki Vincent Soler, Khanh-Nhat Tran-Viet, Stéphane Galiacy, Vachiranee Limviphuvadh, Thomas Klemm, Elizabeth St.Germain, Pierre Fournié, Céline Guillaud, Sebastian Maurer‐Stroh, Felicia Hawthorne, Cyrielle Suarez, B Kantelip, Natalie A. Afshari, Isabelle Creveaux, Xiaoyan Luo, Weihua Meng, Patrick Calvas, Myriam Cassagne, Jean-Louis Arné, Steve Rozen, François Malecaze, Terri L. Young

    Almmustuhtton 2013
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    Artigo
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  3. 3
    Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

    Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase Dahkki Sylvie Tuffery‐Giraud, Christophe Béroud, France Leturcq, Rabah Ben Yaou, Dalil Hamroun, Laurence Michel‐Calemard, Marie‐Pierre Moizard, Rafaëlle Bernard, Mireille Cossée, Pierre Boisseau, Martine Blayau, Isabelle Creveaux, Anne Guiochon‐Mantel, Bérengère de Martinville, Christophe Philippe, Nicole Monnier, Éric Bieth, Philippe Khau Van Kien, François-Olivier Desmet, Véronique Humbertclaude, Jean‐Claude Kaplan, Jamel Chelly, Mireille Claustres

    Almmustuhtton 2009
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    Artigo
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  4. 4
    Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

    Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France Dahkki Mireille Claustres, Caroline Guittard, Dominique Bozon, Fran�oise Chevalier, C. Verlingue, Claude Férec, E. Girodon, C�cile Cazeneuve, Thierry Bienvenu, G. Lalau, Viviane Dumur, Delphine Feldmann, Éric Bieth, Martine Blayau, Christine Clavel, Isabelle Creveaux, Marie‐Claire Malinge, Nicole Monnier, Perrine Malzac, Herv� Mittre, Jean‐Claude Chomel, Jean‐Paul Bonnefont, A. Iron, Mich�le Chery, Marie des Georges

    Almmustuhtton 2000
    Viečča ollesdeavstta
    Artigo
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  5. 5
    Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

    Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption Dahkki Caroline Nava, Benjamin Cogné, A. Santini, Elsa Leitão, François Lecoquierre, Yuyang Chen, Sarah L. Stenton, Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser, Boris Keren, Anne Faudet, Sylvie Forlani, Marie Faoucher, Kévin Uguen, Konrad Platzer, Alexandra Afenjar, Jean‐Luc Alessandri, Stephanie Andres, Chloé Angelini, Bernard Aral, Benoı̂t Arveiler, Tania Attié‐Bitach, Marion Aubert‐Mucca, Guillaume Banneau, Tahsin Stefan Barakat, Giulia Barcia, Stéphanie Baulac, Claire Bénéteau, Fouzia Benkerdou, Virginie Bernard, Stéphane Bézieau, Dominique Bonneau, Marie-Noelle Bonnet-Dupeyron, Simon Boussion, Odile Boute, Elise Brischoux‐Boucher, Samantha J. Bryen, Julien Buratti, Tiffany Busa, Almuth Caliebe, Yline Capri, Kévin Cassinari, Roseline Caumes, Camille Cenni, Pascal Chambon, Perrine Charles, John Christodoulou, Cindy Colson, Solène Conrad, Auriane Cospain, Juliette Coursimault, Thomas Courtin, Madeline Couse, Charles Coutton, Isabelle Creveaux, Alissa M. D’Gama, Benjamin Dauriat, Jean‐Madeleine de Sainte Agathe, Giulia Gobbo, Andrée Delahaye‐Duriez, Julian Delanne, Anne‐Sophie Denommé‐Pichon, Anne Dieux‐Coëslier, Laura Do Souto Ferreira, Martine Doco‐Fenzy, Stephan Drukewitz, Véronique Duboc, Christèle Dubourg, Yannis Duffourd, David A. Dyment, Salima El Chehadeh, Monique Elmaleh, Laurence Faivre, Samuel Fennelly, Hilde Fischer, Mélanie Fradin, Cédric Vaillant, Benjamin Ganne, Jamal Ghoumid, Himanshu Goel, Zeynep Gokce‐Samar, Alice Goldenberg, R. Robert, Svetlana Gorokhova, Louise Goujon, Victoria Granier, Mathilde Gras, John M. Greally, Bianca Greiten, Paul Gueguen, Anne‐Marie Guerrot, Saurav Guha, Anne Guimier, Tobias B. Haack, Hamza Hadj Abdallah, Yosra Halleb, Radu Harbuz

    Almmustuhtton 2025
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    Artigo
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