Resultats de la cerca - Dalil Hamroun

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  1. 1
    The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

    The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome) per Jean‐Claude Kaplan, Dalil Hamroun

    Publicat 2013
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  2. 2
    The 2015 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

    The 2015 version of the gene table of monogenic neuromuscular disorders (nuclear genome) per Jean‐Claude Kaplan, Dalil Hamroun

    Publicat 2014
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  3. 3
    The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

    The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome) per Gisèle Bonne, François Rivier, Dalil Hamroun

    Publicat 2017
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  4. 4
    The 2020 version of the gene table of neuromuscular disorders (nuclear genome)

    The 2020 version of the gene table of neuromuscular disorders (nuclear genome) per Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun

    Publicat 2019
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  5. 5
    The 2021 version of the gene table of neuromuscular disorders (nuclear genome)

    The 2021 version of the gene table of neuromuscular disorders (nuclear genome) per Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun

    Publicat 2020
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  6. 6
    The 2022 version of the gene table of neuromuscular disorders (nuclear genome)

    The 2022 version of the gene table of neuromuscular disorders (nuclear genome) per Enzo Cohen, Gisèle Bonne, François Rivier, Dalil Hamroun

    Publicat 2021
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  7. 7
    The 2023 version of the gene table of neuromuscular disorders (nuclear genome)

    The 2023 version of the gene table of neuromuscular disorders (nuclear genome) per Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun

    Publicat 2022
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  8. 8
    The 2024 version of the gene table of neuromuscular disorders (nuclear genome)

    The 2024 version of the gene table of neuromuscular disorders (nuclear genome) per Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun

    Publicat 2023
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  9. 9
    UMD (Universal Mutation Database): 2005 update

    UMD (Universal Mutation Database): 2005 update per Christophe Béroud, Dalil Hamroun, Gwenaëlle Collod‐Béroud, Cathérine Boileau, Thierry Soussi, Mireille Claustres

    Publicat 2005
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  10. 10
    Meta-analysis of the p53 Mutation Database for Mutant p53 Biological Activity Reveals a Methodologic Bias in Mutation Detection

    Meta-analysis of the p53 Mutation Database for Mutant p53 Biological Activity Reveals a Methodologic Bias in Mutation Detection per Thierry Soussi, Bernard Asselain, Dalil Hamroun, Shunsuke Kato, Chikashi Ishioka, Mireille Claustres, Christophe Béroud

    Publicat 2006
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  11. 11
    Human Splicing Finder: an online bioinformatics tool to predict splicing signals

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

    Publicat 2009
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  12. 12
    UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes:<i>FBN1</i>,<i>FBN2</i>,<i>TGFBR1</i>, and<i>TGFBR2</i>

    UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes:<i>FBN1</i>,<i>FBN2</i>,<i>TGFBR1</i>, and<i>TGFBR2</i> per Melissa Yana Frédéric, Marine Lalande, Cathérine Boileau, Dalil Hamroun, Mireille Claustres, Christophe Béroud, Gwenaëlle Collod‐Béroud

    Publicat 2009
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  13. 13
    Associations between adverse childhood experiences and clinical characteristics of eating disorders

    Associations between adverse childhood experiences and clinical characteristics of eating disorders per Sébastien Guillaume, Isabelle Jaussent, Laurent Maı̈moun, A. Ryst, Maude Sénèque, Laura Villain, Dalil Hamroun, Patrick Lefèbvre, Éric Renard, Ph. Courtet

    Publicat 2016
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  14. 14
    Dissection in Marfan syndrome: the importance of the descending aorta

    Dissection in Marfan syndrome: the importance of the descending aorta per Léa Mimoun, Delphine Détaint, Dalil Hamroun, Florence Arnoult, G Delorme, Mathieu Gautier, Olivier Milleron, Catherine Meuleman, François Raoux, Cathérine Boileau, Alec Vahanian, Guillaume Jondeau

    Publicat 2010
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  15. 15
    The<i>FBN2</i>gene: new mutations, locus-specific database (Universal Mutation Database<i>FBN2</i>), and genotype-phenotype correlations

    The<i>FBN2</i>gene: new mutations, locus-specific database (Universal Mutation Database<i>FBN2</i>), and genotype-phenotype correlations per Melissa Yana Frédéric, Christine Monino, Christoph Marschall, Dalil Hamroun, Laurence Faivre, Guillaume Jondeau, Hanns-Georg Klein, Luitgard M. Neumann, Élodie Gautier, Christine Binquet, Cheryl L. Maslen, Maurice Godfrey, Prateek Gupta, Dianna M. Milewicz, Cathérine Boileau, Mireille Claustres, Christophe Béroud, Gwenaëlle Collod‐Béroud

    Publicat 2008
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  16. 16
    The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients

    The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients per Jérôme Stirnemann, Marie Vigan, Dalil Hamroun, Djazia Heraoui, Linda Rossi‐Semerano, Marc Berger, Christian Rosé, Fabrice Camou, J. Serratrice, B. Grosbois, P. Kaminsky, Alain Robert, Catherine Caillaud, R. Froissart, Thierry Levade, A. Masseau, Cyril Mignot, Frédéric Sedel, Dries Dobbelaere, Marie T. Vanier, Vassili Valayanopoulos, Olivier Fain, B. Fantin, Thierry de Villemeur, France Mentré, Nadia Belmatoug

    Publicat 2012
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  17. 17
    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 per 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

    Publicat 2009
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  18. 18
    The new Ghent criteria for Marfan syndrome: what do they change?

    The new Ghent criteria for Marfan syndrome: what do they change? per Laurence Faivre, Gwenaëlle Collod‐Béroud, Lesley C. Adès, Eloisa Arbustini, Anne H. Child, Bert Callewaert, Bart Loeys, Christine Binquet, Élodie Gautier, Karin Mayer, Mine Arslan‐Kirchner, Maurizia Grasso, Christophe Béroud, Dalil Hamroun, Claire Bonithon‐Kopp, H Plauchu, Peter N. Robinson, Julie De Backer, Paul Coucke, Uta Francke, O. Bouchot, J. E. Wolf, Chantal Stheneur, Nadine Hanna, Delphine Détaint, Anne De Paepe, Cathérine Boileau, Guillaume Jondeau

    Publicat 2011
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  19. 19
    EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

    EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders per António Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Peter A.C. ‘t Hoen, Dimitrios Athanasiou, Suzie-Ann Baker, Paraskevi Sakellariou, Γεώργιος Παλιούρας, Carla D’Angelo, Rita Horváth, Michelangelo Mancuso, Nadine A. M. E. van der Beek, Cornelia Kornblum, Janbernd Kirschner, Davide Pareyson, Guillaume Bassez, Laura Blacas, Maxime Jacoupy, Catherine Eng, François Lamy, Jean‐Philippe Plançon, Jana Haberlová, Esther Brusse, Janneke G. J. Hoeijmakers, Marianne de Visser, Kristl G. Claeys, Carmen Paradas, Antonio Toscano, Vincenzo Silani, Melinda Gyenge, Evy Reviers, Dalil Hamroun, E. Vroom, Mark D. Wilkinson, Hanns Lochmüller, Teresinha Evangelista

    Publicat 2024
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  20. 20
    Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

    Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study per Céline Dogan, Marie De Antonio, Dalil Hamroun, Hugo Varet, Marianne Fabbro, Felix Rougier, Khadija Amarof, Marie-Christine Arne Bes, Anne‐Laure Bédat‐Millet, Anthony Béhin, Rémi Bellance, Françoise Bouhour, Célia Boutte, F. Boyer, Emmanuelle Salort‐Campana, Françoise Chapon, Pascal Cintas, Claude Desnuelle, Romain Deschamps, Valérie Drouin‐Garraud, Xavier Ferrer, H. Gervais-Bernard, Karima Ghorab, Pascal Laforêt, Armelle Magot, Laurent Magy, Dominique Ménard, Marie-Christine Minot, Aleksandra Nadaj‐Pakleza, Sybille Pellieux, Yann Péréon, Marguerite Preudhomme, Jean Pouget, Sabrina Sacconi, Guilhem Solé, Tanya Stojkovich, V. Tiffreau, Andoni Urtizberea, Christophe Vial, Fabien Zagnoli, Gilbert Caranhac, Claude Bourlier, Gerard Riviere, Alain Geille, Romain K. Gherardi, B. Eymard, Jack Puymirat, Sandrine Katsahian, Guillaume Bassez

    Publicat 2016
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