תוצאות חיפוש - Jérôme Maluenda

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  1. 1
    Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis

    Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis מאת Dan Mejlachowicz, Flora Nolent, Jérôme Maluenda, Hanitra Ranjatoelina-Randrianaivo, Fabienne Giuliano, Marta Gut, Damien Sternberg, Annie Laquerrière, Judith Melki

    יצא לאור 2015
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  2. 2
    Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

    Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis מאת Jérôme Maluenda, Constance Manso, Loïc Quevarec, Alexandre Vivanti, Florent Marguet, Marie Gonzalès, Fabien Guimiot, Florence Petit, Annick Toutain, Sandra Whalen, R Grigorescu, Anne Dieux Coeslier, Marta Gut, Marta Gut, Annie Laquerrière, Jérôme Devaux, Judith Melki

    יצא לאור 2016
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  3. 3
    Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

    Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita מאת Gianina Ravenscroft, Flora Nolent, Sulekha Rajagopalan, Ana M. Meireles, Kevin J. Paavola, Dominique Gaillard, Elisabeth Alanio, Michael E. Buckland, Susan Arbuckle, Michael Krivanek, Jérôme Maluenda, S. Pannell, Rebecca Gooding, Royston Ong, Richard J. N. Allcock, Ellaine Dóris Fernandes Carvalho, Maria D.F. Carvalho, Fernando Kok, William S. Talbot, Judith Melki, Nigel G. Laing

    יצא לאור 2015
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  4. 4
    Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency

    Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency מאת Vanessa Sancho‐Shimizu, Rebeca Pérez de Diego, Lazaro Lorenzo, Rabih Halwani, Abdullah Alangari, Elisabeth Israelsson, Sylvie Fabrega, Annabelle Cardon, Jérôme Maluenda, Megumi Tatematsu, Farhad Mahvelati, Melina Herman, Michael J. Ciancanelli, Yiqi Guo, Zobaida Alsum, Nouf Alkhamis, Abdulkarim S. Al-Makadma, Ata Ghadiri, Soraya Boucherit, Sabine Plancoulaine, Capucine Pïcard, Flore Rozenberg, Marc Tardieu, Pierre Lebon, Emmanuelle Jouanguy, Nima Rezaei, Tsukasa Seya, Misako Matsumoto, Damien Chaussabel, Anne Puel, Shen‐Ying Zhang, Laurent Abel, Saleh Al‐Muhsen, Jean‐Laurent Casanova

    יצא לאור 2011
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  5. 5
    Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

    Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects מאת Annie Laquerrière, Jérôme Maluenda, Adrien Camus, Laura Fontenas, Klaus Dieterich, Flora Nolent, Jie Zhou, Nicole Monnier, Philippe Latour, D. Gentil, D. Héron, I. Desguerres, P. Landrieu, Claire Bénéteau, B. Delaporte, Céline Bellesme, C. Baumann, Yline Capri, Alice Goldenberg, Stanislas Lyonnet, Dominique Bonneau, B. Estournet, Susana Quijano-Roy, Christine Francannet, S. Odent, Marie‐Hélène Saint‐Frison, Sabine Sigaudy, Dominique Figarella‐Branger, A. Gélot, J M Mussini, C. Lacroix, Valérie Drouin‐Garraud, Marie‐Claire Malinge, Tania Attié‐Bitach, B. Bessières, Maryse Bonnière, Férechté Encha‐Razavi, A. M. Beaufrére, S. Khung-Savatovsky, María José Pérez, Alexandre Vasiljevic, Sandra Mercier, J. Roume, Laetitia Trestard, Pascale Saugier‐Veber, Marie‐Pierre Cordier, Valérie Layet, Marine Legendre, Adeline Vigouroux‐Castera, Joël Lunardi, Mónica Bayés, Pierre‐Simon Jouk, Luc Rigonnot, Michèle Granier, Damien Sternberg, J. Warszawski, Marta Gut, M. Gonzalés, Marcel Tawk, Judith Melki

    יצא לאור 2013
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  6. 6
    Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

    Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy מאת Michaela Yuen, Sarah A. Sandaradura, James J. Dowling, Alla S. Kostyukova, Natalia Moroz, Kate G.R. Quinlan, Vilma‐Lotta Lehtokari, Gianina Ravenscroft, Emily J. Todd, Ozge Ceyhan‐Birsoy, David S. Gokhin, Jérôme Maluenda, Monkol Lek, Flora Nolent, Christopher T. Pappas, Stefanie M. Novak, Adele D’Amico, Edoardo Malfatti, Brett Thomas, Stacey Gabriel, Namrata Gupta, Mark J. Daly, Biljana Ilkovski, Peter J. Houweling, Ann E. Davidson, Lindsay C. Swanson, Catherine A. Brownstein, Vandana Gupta, Līvija Medne, Patrick Shannon, Nicole Martin, David Bick, Anders Flisberg, Eva Holmberg, Peter Van den Bergh, Pablo Lapunzina, Leigh B. Waddell, Darcée D. Sloboda, Enrico Bertini, David Chitayat, William R. Telfer, Annie Laquerrière, Carol C. Gregorio, Coen A. C. Ottenheijm, Carsten G. Bönnemann, Katarina Pelin, Alan H. Beggs, Yukiko Hayashi, Norma B. Romero, Nigel G. Laing, Ichizo Nishino, Carina Wallgren‐Pettersson, Judith Melki, Velia M. Fowler, Daniel G. MacArthur, Kathryn N. North, Nigel F. Clarke

    יצא לאור 2014
    קבל טקסט מלא
    Artigo
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  7. 7
    Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

    Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita מאת Annie Laquerrière, Dana Jaber, Emanuela Abiusi, Jérôme Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loïc Quevarec, Flora Nolent, Valérie Biancalana, Philippe Latour, Damien Sternberg, Yline Capri, Alain Verloès, Bettina Bessières, Laurence Lœuillet, Tania Attié‐Bitach, Jéléna Martinovic, Sophie Blesson, Florence Petit, Claire Bénéteau, Sandra Whalen, Florent Marguet, Jérôme Bouligand, Delphine Héron, Géraldine Viot, Jeanne Amiel, Daniel Amram, Céline Bellesme, Martine Bucourt, Laurence Faivre, Pierre‐Simon Jouk, Suonavy Khung, Sabine Sigaudy, Anne‐Lise Delezoide, Alice Goldenberg, Marie‐Line Jacquemont, Laëtitia Lambert, Valérie Layet, Stanislas Lyonnet, Arnold Münnich, Lionel Van Maldergem, Juliette Piard, Fabien Guimiot, P. Landrieu, Pascaline Létard, Fanny Pelluard, Laurence Perrin, Marie‐Hélène Saint‐Frison, Haluk Topaloğlu, Laetitia Trestard, Catherine Vincent‐Delorme, Helge Amthor, Christine Barnérias, Alexandra Benachi, Éric Bieth, Elise Boucher, Valérie Cormier‐Daire, Andrée Delahaye‐Duriez, Isabelle Desguerre, B. Eymard, Christine Francannet, Sarah Grotto, Didier Lacombe, Fanny Laffargue, Marine Legendre, Dominique Martin–Coignard, André Mégarbané, Sandra Mercier, Mathilde Nizon, Luc Rigonnot, Fabienne Prieur, Chloé Quēlin, Hanitra Ranjatoelina-Randrianaivo, Nicoletta Resta, Annick Toutain, Hélène Verhelst, Marie Vincent, Estelle Colin, Catherine Fallet‐Bianco, Michèle Granier, R Grigorescu, Julien Saada, Marie Gonzalès, Anne Guiochon‐Mantel, Jean‐Louis Bessereau, Marcel Tawk, Marta Gut, Cyril Gitiaux, Judith Melki

    יצא לאור 2021
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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