Ngā hua rapu - Nadège Calmels

  • E whakaatu ana i te 1 - 7 hua o te 7
Whakamahine hua
  1. 1
    The in vivo mitochondrial two-step maturation of human frataxin

    The in vivo mitochondrial two-step maturation of human frataxin mā Stéphane Schmucker, Manuela Argentini, Nadège Calmels, Alain Martelli, Hélène Puccio

    I whakaputaina 2008
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  2. 2
    Genetic Compensation in a Human Genomic Disorder

    Genetic Compensation in a Human Genomic Disorder mā Nadège Calmels, Pascale Saugier‐Veber, Françoise Girard‐Lemaire, Gabrielle Rudolf, Bérénice Doray, Éric Guérin, Pierre Kuhn, Mathilde Arrivé, Catherine Gilch, Evelyne Schmitt, Séverine Fehrenbach, Albert Schnebelen, Thierry Frébourg, Elisabeth Flori

    I whakaputaina 2009
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

    Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome mā Nadège Calmels, Elena Botta, Nan Jia, Heather Fawcett, Tiziana Nardò, Yuka Nakazawa, Manuela Lanzafame, Shinichi Moriwaki, Katsuo Sugita, Masaya Kubota, Cathy Obringer, Marie‐Aude Spitz, Miria Stefanini, Vincent Laugel, Donata Orioli, Tomoo Ogi, Alan R. Lehmann

    I whakaputaina 2018
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    Artigo
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  4. 4
    Natural History and Phenotypic Spectrum of <scp>GAA‐<i>FGF14</i></scp> Sporadic Late‐Onset Cerebellar Ataxia (<scp>SCA27B</scp>)

    Natural History and Phenotypic Spectrum of <scp>GAA‐<i>FGF14</i></scp> Sporadic Late‐Onset Cerebellar Ataxia (<scp>SCA27B</scp>) mā Thomas Wirth, Guillemette Clément, Clarisse Delvallée, Céline Bonnet, Thomas Bogdan, Andra Iosif, Audrey Schalk, Jean‐Baptiste Chanson, David Pellerin, Bernard Brais, Virginie Roth, Marion Wandzel, Marie‐Céline Fleury, Amélie Piton, Nadège Calmels, Izzie Jacques Namer, Stéphane Kremer, Christine Tranchant, M. Renaud, Mathieu Anheim

    I whakaputaina 2023
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    Artigo
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  5. 5
    The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil

    The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil mā Ligia Pereira Castro, Mourad Sahbatou, Fernanda S. G. Kehdy, Allysson Allan de Farias, Andrey A. Yurchenko, Tiago Antônio de Souza, Reginaldo Cruz Alves Rosa, Celso Teixeira Mendes‐Junior, Víctor Borda, Veridiana Munford, Évelin Aline Zanardo, Samar N. Chehimi, Leslie Domenici Kulikowski, Marla Mendes de Aquino, Thiago Peixoto Leal, Eduardo Tarazona‐Santos, Sulamita Costa Wirth Chaibub, Blanca Gener, Nadège Calmels, Vincent Laugel, Alain Sarasin, Carlos Frederico Martins Menck

    I whakaputaina 2020
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    Artigo
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  6. 6
    Highlighting the Dystonic Phenotype Related to <scp><i>GNAO1</i></scp>

    Highlighting the Dystonic Phenotype Related to <scp><i>GNAO1</i></scp> mā Thomas Wirth, Giacomo Garone, Manju A. Kurian, Amélie Piton, Francisca Millan, Aida Telegrafi, Nathalie Drouot, Gabrielle Rudolf, Jamel Chelly, Warren A. Marks, Lydie Bürglen, Diane Demailly, Phillipe Coubes, Mayté Castro Jimenez, Sylvie Joriot, Jamal Ghoumid, Jérémie Belin, Jean‐Marc Faucheux, Lubov Blumkin, Mariam Hull, Mered Parnes, Claudia Ravelli, Gaëtan Poulen, Nadège Calmels, Andrea H. Németh, Martin A. Smith, Angela Barnicoat, Claire Ewenczyk, Aurélie Méneret, Emmanuel Roze, Boris Keren, Cyril Mignot, Christophe Béroud, Fernando Delgado Acosta, C. Nowak, William G. Wilson, Dora Steel, Alessandro Capuano, Marie Vidailhet, Jean‐Pierre Lin, Christine Tranchant, Laura Cif, Diane Doummar, Mathieu Anheim

    I whakaputaina 2022
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

    A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 mā Robin Walters, Sébastien Jacquemont, Armand Valsesia, Adam J. de Smith, Danielle Martinet, Johanna C. Andersson‐Assarsson, Mario Falchi, Fei Chen, Joris Andrieux, Stéphane Lobbens, B Delobel, Fanny Stutzmann, Julia S. El-Sayed Moustafa, Jean-Claude Chèvre, Cécile Lecœur, Vincent Vatin, Sonia Bouquillon, Jessica L. Buxton, Odile Boute, Muriel Holder‐Espinasse, Jean‐Marie Cuisset, M. Lemaître, Anne‐Emmanuelle Ambresin, Andrea Brioschi, Muriel Gaillard, Vittorio Giusti, Florence Fellmann, Alessandra Ferrarini, Nouchine Hadjikhani, Dominique Campion, Audrey Guilmatre, Anna Goldenberg, Nadège Calmels, Jean‐Louis Mandel, Cédric Le Caignec, A. David, Bertrand Isidor, Marie‐Pierre Cordier, Sophie Dupuis‐Girod, Audrey Labalme, Damien Sanlaville, Mylène Béri‐Dexheimer, Philippe Jonveaux, Bruno Leheup, Katrin Õunap, Elena G. Bochukova, Elana Henning, Julia M. Keogh, Richard J. Ellis, K D MacDermot, Mieke M. van Haelst, C. Vincent‐Delorme, Ghislaine Plessis, Renaud Touraine, Anne Philippe, Valérie Malan, M. Mathieu‐Dramard, Jean Chiésa, Bettina Blaumeiser, R. Frank Kooy, Robert Caïazzo, Marie Pigeyre, Beverley Balkau, Robert Sladek, Sven Bergmann, Vincent Mooser, Dawn Waterworth, Alexandre Reymond, Péter Vollenweider, Gérard Waeber, Ants Kurg, Priit Palta, Tõnu Esko, Andres Metspalu, Mari Nelis, Paul Elliott, Anna‐Liisa Hartikainen, Mark I. McCarthy, L. Peltonen, Lena Carlsson, Peter Jacobson, Lars Sjöström, Ni Huang, Matthew E. Hurles, Stephen O’Rahilly, I. Sadaf Farooqi, Katrin Männik, Marjo‐Riitta Järvelin, François Pattou, Stephen Eyre, Andrew J. Walley, Lachlan Coin, Alexandra I. F. Blakemore, Philippe Froguel, J. Beckmann

    I whakaputaina 2010
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    Artigo
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