खोज परिणाम - Pierre‐Simon Jouk

  • प्रदर्शित 1 - 12 परिणाम 12
परिणाम को परिष्कृत करें
  1. 1
    Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

    Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant द्वारा Chloé Angelini, Julien Van‐Gils, Antoine Bigourdan, Pierre‐Simon Jouk, Didier Lacombe, Patrice Ménégon, Sébastien Moutton, Florence Riant, Guilhem Solé, Elisabeth Tournier‐Lasserve, Aurélien Trimouille, Marie Vincent, Cyril Goizet

    प्रकाशित 2018
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    Artigo
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  2. 2
    Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

    Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella द्वारा Mariem Ben Khelifa, Charles Coutton, Raoudha Zouari, Thomas Karaouzène, John Rendu, Marie Bidart, Sandra Yassine, Virginie Pierre, Julie Delaroche, Sylviane Hennebicq, Didier Grünwald, Denise Escalier, Karine Pernet-Gallay, Pierre‐Simon Jouk, Nicolas Thierry‐Mieg, Aminata Touré, Christophe Arnoult, Pierre F. Ray

    प्रकाशित 2013
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    Artigo
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  3. 3
    MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia

    MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia द्वारा Charles Coutton, Raoudha Zouari, Farid Abada, Mariem Ben Khelifa, Ghaya Merdassi, Chahnez Triki, Denise Escalier, Laëtitia Hesters, Valérie Mitchell, Rachel Lévy, Nathalie Sermondade, Florence Boitrelle, François Vialard, Véronique Satre, Sylviane Hennebicq, Pierre‐Simon Jouk, Christophe Arnoult, Joël Lunardi, Pierre F. Ray

    प्रकाशित 2012
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    Artigo
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  4. 4
    The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis

    The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis द्वारा Klaus Dieterich, Susana Quijano-Roy, Nicole Monnier, Jie Zhou, Julien Fauré, Daniela Avila‐Smirnow, Robert Carlier, Cécile Laroche, Pascale Marcorelles, Sandra Mercier, André Mégarbané, Sylvie Odent, Norma B. Romero, Damien Sternberg, Isabelle Marty, B. Estournet, Pierre‐Simon Jouk, Judith Melki, Joël Lunardi

    प्रकाशित 2012
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    Artigo
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  5. 5
    The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population

    The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population द्वारा Klaus Dieterich, Raoudha Zouari, Radu Harbuz, François Vialard, Dra. Yaima Pupo Martínez, H. Bellayou, Nadia Prisant, Abdelali Zoghmar, Marie-Roberte Guichaoua, Isabelle Koscinski, Mahmoud Kharouf, Mehrdad Noruzinia, Sellama Nadifi, A. Sefiani, Jacqueline Lornage, Mohamed Zahi, Stéphane Viville, B Sèle, Pierre‐Simon Jouk, Marie‐Christine Jacob, Denise Escalier, Yorgos Nikas, Sylviane Hennebicq, Joël Lunardi, Pierre F. Ray

    प्रकाशित 2009
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    Artigo
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  6. 6
    A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation

    A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation द्वारा Radu Harbuz, Raoudha Zouari, Virginie Pierre, Mariem Ben Khelifa, Mahmoud Kharouf, Charles Coutton, Ghaya Merdassi, Farid Abada, Jessica Escoffier, Yorgos Nikas, François Vialard, Isabelle Koscinski, Chema Triki, Nathalie Sermondade, Thérèse Schweitzer, A. Zhioua, Fethi Zhioua, Habib Latrous, Lazhar Halouani, Ouafi Marrakchi, Mounir Makni, Pierre‐Simon Jouk, B Sèle, Sylviane Hennebicq, Véronique Satre, Stéphane Viville, Christophe Arnoult, Joël Lunardi, Pierre F. Ray

    प्रकाशित 2011
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    Artigo
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  7. 7
    Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

    Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity द्वारा Eric D. Boyden, Belinda Campos‐Xavier, Sebastian Kalamajski, Trevor L. Cameron, Philippe Suarez, Goranka Tanackovich, Generoso Andria, Diana Ballhausen, Michael D. Briggs, Claire Hartley, Daniel H. Cohn, H. Rosemarie Davidson, Christine M Hall, Shiro Ikegawa, Pierre‐Simon Jouk, Rainer König, André Megarbané, Gen Nishimura, Ralph S. Lachman, Geert Mortier, David L. Rimoin, R. Curtis Rogers, Massimiliano Rossi, Hirotake Sawada, Richard H. Scott, Sheila Unger, Eugênia Ribeiro Valadares, John F. Bateman, Matthew L. Warman, Andrea Superti‐Furga, Luisa Bonafé

    प्रकाशित 2011
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    Artigo
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  8. 8
    Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

    Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome द्वारा Marine Legendre, Véronique Abadie, Tania Attié‐Bitach, Nicole Philip, Tiffany Busa, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Didier Lacombe, Annick Toutain, Sophie Blesson, Sophie Julia, Dominique Martin–Coignard, David Geneviève, Bruno Leheup, Sylvie Odent, Pierre‐Simon Jouk, Sandra Mercier, Laurence Faivre, Catherine Vincent‐Delorme, Christine Francannet, Sophie Naudion, Michèle Mathieu‐Dramard, Marie‐Ange Delrue, Alice Goldenberg, Delphine Héron, Philippe Parent, Renaud Touraine, Valérie Layet, Damien Sanlaville, Chloé Quēlin, Sébastien Moutton, Mélanie Fradin, Aurélia Jacquette, Sabine Sigaudy, Lucile Pinson, Pierre Sarda, Anne‐Marie Guerrot, Massimiliano Rossi, Alice Masurel‐Paulet, Salima El Chehadeh, Xavier Piguel, Montserrat Rodriguez‐Ballesteros, Stéphanie Ragot, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert‐Dussardier

    प्रकाशित 2017
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    Artigo
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  9. 9
    Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human

    Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human द्वारा Charles Coutton, Alexandra Vargas, Amir Amiri‐Yekta, Zine‐Eddine Kherraf, Sélima Fourati Ben Mustapha, Pauline Le Tanno, Clémentine Wambergue-Legrand, Thomas Karaouzène, Guillaume Martinez, Serge Crouzy, Abbas Daneshipour, Seyedeh Hanieh Hosseini, Valérie Mitchell, Lazhar Halouani, Ouafi Marrakchi, Mounir Makni, Habib Latrous, Mahmoud Kharouf, Jean‐François Deleuze, Anne Boland, Sylviane Hennebicq, Véronique Satre, Pierre‐Simon Jouk, Nicolas Thierry‐Mieg, Béatrice Conne, Denis Dacheux, Nicolas Landrein, Alain Schmitt, Laurence Stouvenel, Patrick Lorès, Elma El Khouri, Serge P. Bottari, Julien Fauré, Jean‐Philippe Wolf, Karin Pernet‐Gallay, Jessica Escoffier, Hamid Gourabi, Derrick R. Robinson, Serge Nef, Emmanuel Dulioust, Raoudha Zouari, Mélanie Bonhivers, Aminata Touré, Christophe Arnoult, Pierre F. Ray

    प्रकाशित 2018
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    Artigo
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  10. 10
    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 द्वारा 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

    प्रकाशित 2013
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    Artigo
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  11. 11
    Further delineation of the<i>MECP2</i>duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

    Further delineation of the<i>MECP2</i>duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features द्वारा Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thévenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remérand, Christine Francannet, Fanny Laffargue, Odile Boespflug‐Tanguy, Albert David, Bertrand Isidor, Jacqueline Vigneron, Bruno Leheup, Laëtitia Lambert, Christophe Philippe, Mylène Béri‐Dexheimer, Jean‐Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Laurent Guibaud, Valérie Cormier‐Daire, Marlène Rio, Jean‐Paul Bonnefont, Bernard Échenne, Hubert Journel, Lydie Bürglen, Sandra Chantot‐Bastaraud, Thierry Bienvenu, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre‐Simon Jouk, Klaus Dieterich, Françoise Devillard, Didier Lacombe, Nicole Philip, Sabine Sigaudy, Anne Moncla, Chantal Missirian, Catherine Badens, Nathalie Perreton, Christel Thauvin‐Robinet, Réseau AChro-Puce, Jean‐Michel Pédespan, Caroline Rooryck, Cyril Goizet, Catherine Vincent‐Delorme, Bénédicte Duban‐Bedu, Nadia Bahi‐Buisson, Alexandra Afenjar, Kim Maincent, Delphine Héron, Jean‐Luc Alessandri, Dominique Martin–Coignard, Gaëtan Lesca, Massimiliano Rossi, Martine Raynaud, Patrick Callier, Anne‐Laure Mosca‐Boidron, Nathalie Marle, Charles Coutton, Véronique Satre, Cédric Le Caignec, Valérie Malan, Serge Romana, Boris Keren, Anne‐Claude Tabet, Valérie Kremer, Sophie Scheidecker, Adeline Vigouroux, Marilyn Lackmy-Port-Lis, Damien Sanlaville, Marianne Till, Maryline Carneiro, Brigitte Gilbert‐Dussardier, Marjolaine Willems, Hilde Van Esch, Vincent des Portes, Salima El Chehadeh

    प्रकाशित 2018
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    Artigo
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    में बचाया:
  12. 12
    Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

    Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita द्वारा 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

    प्रकाशित 2021
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    Artigo
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