खोज परिणाम - Claude Besmond

  • प्रदर्शित 1 - 14 परिणाम 14
परिणाम को परिष्कृत करें
  1. 1
    Association of variant alleles of mannose binding lectin with severity of pulmonary disease in cystic fibrosis: cohort study

    Association of variant alleles of mannose binding lectin with severity of pulmonary disease in cystic fibrosis: cohort study द्वारा Martine Gabolde, M Guilloud-Bataille, J Feingold, Claude Besmond

    प्रकाशित 1999
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    Artigo
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  2. 2
    Stabilization of RNA during laser capture microdissection by performing experiments under argon atmosphere or using ethanol as a solvent in staining solutions

    Stabilization of RNA during laser capture microdissection by performing experiments under argon atmosphere or using ethanol as a solvent in staining solutions द्वारा Mathieu Clément‐Ziza, Arnold Münnich, Stanislas Lyonnet, Francis Jaubert, Claude Besmond

    प्रकाशित 2008
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    Artigo
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  3. 3
    Microsatellite polymorphism in the promoter sequence of the elongation factor 3 gene of Candida albicans as the basis for a typing system

    Microsatellite polymorphism in the promoter sequence of the elongation factor 3 gene of Candida albicans as the basis for a typing system द्वारा Stéphane Bretagne, José Manuel Correia da Costa, Claude Besmond, R. Carsique, Richard Calderone

    प्रकाशित 1997
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    Artigo
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  4. 4
    Evaluation of methods for amplification of picogram amounts of total RNA for whole genome expression profiling

    Evaluation of methods for amplification of picogram amounts of total RNA for whole genome expression profiling द्वारा Mathieu Clément‐Ziza, David Gentien, Stanislas Lyonnet, Jean Paul Thiery, Claude Besmond, Charles Decraene

    प्रकाशित 2009
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    Artigo
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  5. 5
    <i>CSNK2B</i> splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy

    <i>CSNK2B</i> splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy द्वारा Karine Poirier, Laurence Hubert, Géraldine Viot, Marlène Rio, Pierre Billuart, Claude Besmond, Thierry Bienvenu

    प्रकाशित 2017
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    Artigo
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  6. 6
    Evaluation of Parental Mitochondrial Inheritance in Neonates Born after Intracytoplasmic Sperm Injection

    Evaluation of Parental Mitochondrial Inheritance in Neonates Born after Intracytoplasmic Sperm Injection द्वारा Claude Danan, Damien Sternberg, André Van Steirteghem, Cécile Cazeneuve, Philippe Duquesnoy, Claude Besmond, Michel Goossens, Willy Lissens, Serge Amselem

    प्रकाशित 1999
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    Artigo
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  7. 7
    Molecular cloning of cDNA for rat L-type pyruvate kinase and aldolase B.

    Molecular cloning of cDNA for rat L-type pyruvate kinase and aldolase B. द्वारा Marie‐Pierre Simon, Claude Besmond, Dominique Cottreau, Alfred Weber, Philippe CHAUMET‐RIFFAUD, J C Dreyfus, JoséSala Trépat, Joëlle Marie, A Kahn

    प्रकाशित 1983
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    Artigo
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  8. 8
    Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

    Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder द्वारा Arnold Münnich, Caroline Demily, Lisa Frugère, Charlyne Duwime, Valérie Malan, Giulia Barcia, Céline Vidal, Émeline Throo, Claude Besmond, Laurence Hubert, Gilles Roland-Manuel, Jean-Pierre Malen, Mélanie Ferreri, Sylvain Hanein, Jean‐Christophe Thalabard, Nathalie Boddaert, Moïse Assouline

    प्रकाशित 2019
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    Artigo
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  9. 9
    Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders

    Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders द्वारा Huilun Wang, Liangguang Leo Lin, Zexin Jason Li, Xiaoqiong Wei, Omar Askander, Gerarda Cappuccio, Mais Hashem, Laurence Hubert, Arnold Münnich, Mashael Alqahtani, Qi Pang, Margit Burmeister, You Lu, Karine Poirier, Claude Besmond, Shengyi Sun, Nicola Brunetti‐Pierri, Fowzan S. Alkuraya, Ling Qi

    प्रकाशित 2023
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    Artigo
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  10. 10
    Mutations in BOREALIN cause thyroid dysgenesis

    Mutations in BOREALIN cause thyroid dysgenesis द्वारा Aurore Carré, Athanasia Stoupa, Dulanjalee Kariyawasam, Manelle Guériouz, Cyrille Ramond, Taylor Monus, Juliane Léger, Sébastien Gaujoux, F. Sébag, Nicolas Glaser, Delphine Zénaty, Patrick Nitschké, Christine Bôle‐Feysot, Laurence Hubert, Stanislas Lyonnet, Raphaël Scharfmann, Arnold Münnich, Claude Besmond, William R. Taylor, Michel Polak

    प्रकाशित 2016
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    Artigo
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  11. 11
    <scp>TUBB</scp> 1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

    <scp>TUBB</scp> 1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology द्वारा Athanasia Stoupa, Frédéric Adam, Dulanjalee Kariyawasam, Catherine Strassel, Sanjay Gawade, Gabor Szinnai, Alexandre Kauskot, Dominique Lasne, Carsten Janke, Kathiresan Natarajan, Alain Schmitt, Christine Bôle‐Feysot, Patrick Nitschké, Juliane Léger, Fabienne Jabot‐Hanin, Frédéric Torès, Anita Michel, Arnold Münnich, Claude Besmond, Raphaël Scharfmann, François Lanza, Delphine Borgel, Michel Polak, Aurore Carré

    प्रकाशित 2018
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    Artigo
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  12. 12
    SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

    SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability द्वारा Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc, Emma van Reempts, Frédéric Tran Mau‐Them, Ingrid M. Wentzensen, Kit Sing Au, Kate Richardson, Hope Northrup, Vincent Gâtinois, David Geneviève, Raymond J. Louie, Michael J. Lyons, Lone Walentin Laulund, Charlotte Brasch‐Andersen, Trine Juul, Fatima El It, Nathalie Marle, Patrick Callier, Raissa Relator, Sadegheh Haghshenas, Haley McConkey, Jennifer Kerkhof, Claudia Cesario, Antonio Novelli, Nicola Brunetti‐Pierri, Michele Pinelli, Perrine Pennamen, Sophie Naudion, Marine Legendre, Cécile Courdier, Aurélien Trimouille, Martine Doco Fenzy, Lynn Pais, Alison Yeung, Kimberly Nugent, Elizabeth Roeder, Tadahiro Mitani, Jennifer E. Posey, Daniel G. Calame, Hagith Yonath, Jill A. Rosenfeld, Luciana Musante, Flavio Faletra, Francesca Montanari, Giovanna Sartor, Alessandra Vancini, Marco Seri, Claude Besmond, Karine Poirier, Laurence Hubert, Dimitri Hemelsoet, Arnold Münnich, James R. Lupski, Christophe Philippe, Christel Thauvin‐Robinet, Laurence Faivre, Bekim Sadiković, Jérôme Govin, Bart Dermaut, Antonio Vitobello

    प्रकाशित 2023
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    Artigo
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  13. 13
    Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

    Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies द्वारा Mingchu Xu, Ya‐Jing Xie, Hana Abouzeid, Christopher T. Gordon, Alessia Fiorentino, Zixi Sun, Anna Lehman, Ihab S. Osman, Rachayata Dharmat, Rosa Riveiro-Álvarez, Linda Bapst-Wicht, Darwin Babino, Gavin Arno, Virginia Busetto, Li Zhao, Hui Li, Miguel Ángel López-Martínez, Liliana F. Azevedo, Laurence Hubert, Nikolas Pontikos, Aiden Eblimit, Isabel Lorda‐Sánchez, Valeria Kheir, Vincent Plagnol, Myriam Oufadem, Zachry T. Soens, Lizhu Yang, Christine Bôle‐Feysot, Rolph Pfundt, Nathalie Allaman-Pillet, Patrick Nitschké, Michael E. Cheetham, Stanislas Lyonnet, Smriti A. Agrawal, Huajin Li, Gaëtan Pinton, Michel Michaelides, Claude Besmond, Yumei Li, Zhisheng Yuan, Johannes von Lintig, Andrew R. Webster, Hervé Le Hir, Peter Stoilov, Jeanne Amiel, Alison J. Hardcastle, Carmen Ayuso, Ruifang Sui, Rui Chen, Rando Allikmets, Daniel F. Schorderet, Graeme Black, Georgina Hall, Rachel Gillespie, Simon Ramsden, Forbes D.C. Manson, Panagiotis I. Sergouniotis, Chris F. Inglehearn, Carmel Toomes, Manir Ali, Martin McKibbin, James A. Poulter, Emma Lord, Andrea H. Németh, Stephanie Halford, Susan M. Downes, Jing Yu

    प्रकाशित 2017
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    Artigo
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  14. 14
    IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

    IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients द्वारा Cyril Mignot, Aoife McMahon, Claire Bar, Philippe M. Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie‐Line Jacquemont, Marilyn Tallot, Mathieu Milh, Patrick Edery, Pauline Marzin, Giulia Barcia, Christine Barnérias, Claude Besmond, Thierry Bienvenu, Ange-Line Bruel, Ledia Brunga, Berten Ceulemans, Christine Coubes, Ana G. Cristancho, Fiona Cunningham, Marie-Bertille Dehouck, Elizabeth Donner, Bénédicte Duban‐Bedu, Christèle Dubourg, Elena Gardella, Julie Gauthier, David Geneviève, Stéphanie Gobin‐Limballe, Ethan M. Goldberg, Eveline Hagebeuk, Fadi F. Hamdan, Miroslava Hančárová, Laurence Hubert, Christine Ioos, Shoji Ichikawa, Sandra Janssens, Hubert Journel, Anna Kaminśka, Boris Keren, Marion Koopmans, Caroline Lacoste, Petra Laššuthová, Damien Lederer, Daphné Lehalle, Dragan Marjanović, Julia Métreau, Jacques L Michaud, Kathryn Miller, Berge A. Minassian, Joannella Morales, Marie‐Laure Moutard, Arnold Munnich, Xilma R. Ortiz‐González, Jean-Marc Pinard, Darina Prchalová, Audrey Putoux, Chloé Quēlin, Alyssa Rosen, J. Roume, Elsa Rossignol, Marleen Simon, Thomas Smol, Natasha Shur, Ivan Shelihan, Katalin Štěrbová, Emílie Vyhnálková, Catheline Vilain, Julie Soblet, Guillaume Smits, Samuel Yang, Jasper J. van der Smagt, Peter M. van Hasselt, Marjan van Kempen, Sarah Weckhuysen, Ingo Helbig, Laurent Villard, Delphine Héron, Bobby P.C. Koeleman, Rikke S. Møller, Gaëtan Lesca, Katherine L. Helbig, Rima Nabbout, Nienke E. Verbeek, Christel Depienne

    प्रकाशित 2018
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    Artigo
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