Výsledky vyhledávání - Nicolas Richard

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  1. 1
    Épidémiologie et histoire naturelle des maladies inflammatoires chroniques de l’intestin

    Épidémiologie et histoire naturelle des maladies inflammatoires chroniques de l’intestin Autor Nicolas Richard, Guillaume Savoye

    Vydáno 2025
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  2. 2
    Paternal<i>GNAS</i>Mutations Lead to Severe Intrauterine Growth Retardation (IUGR) and Provide Evidence for a Role of XLαs in Fetal Development

    Paternal<i>GNAS</i>Mutations Lead to Severe Intrauterine Growth Retardation (IUGR) and Provide Evidence for a Role of XLαs in Fetal Development Autor Nicolas Richard, Arnaud Molin, Nadia Coudray, Pauline Rault-Guillaume, Harald Jüppner, Marie‐Laure Kottler

    Vydáno 2013
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  3. 3
    A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/B<i>GNAS</i>and Autosomal Dominant Pseudohypoparathyroidism Type Ib

    A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/B<i>GNAS</i>and Autosomal Dominant Pseudohypoparathyroidism Type Ib Autor Nicolas Richard, Geneviève Abéguilé, Nadia Coudray, Hervé Mittre, Nicolas Gruchy, Joris Andrieux, P. Cathébras, Marie‐Laure Kottler

    Vydáno 2012
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  4. 4
    The Wide Spectrum of COVID-19 Clinical Presentation in Children

    The Wide Spectrum of COVID-19 Clinical Presentation in Children Autor Nadia Nathan, Blandine Prévost, Chiara Siléo, Nicolas Richard, Laura Berdah, Guillaume Thouvenin, Guillaume Aubertin, Thibault Lecarpentier, Aurélie Schnuriger, Julien Jegard, Isabelle Guellec, Jessica Taytard, Harriet Corvol

    Vydáno 2020
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  5. 5
    Progressive Osseous Heteroplasia: A Model for the Imprinting Effects of GNAS Inactivating Mutations in Humans

    Progressive Osseous Heteroplasia: A Model for the Imprinting Effects of GNAS Inactivating Mutations in Humans Autor M. Lebrun, Nicolas Richard, Geneviève Abéguilé, Anne David, Anne Dieux, Hubert Journel, Didier Lacombe, Graziella Pinto, Sylvie Odent, Juliette Salles, Alain Taı̈eb, S. Gandon-Laloum, Marie‐Laure Kottler

    Vydáno 2010
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  6. 6
    Vitamin D–Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

    Vitamin D–Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition? Autor Arnaud Molin, Arnaud Wiedemann, Nick Demers, Martin Kaufmann, Jérémy Do Cao, Laurent Mainard, B. Dousset, P. Journeau, Geneviève Abéguilé, Nadia Coudray, Hervé Mittre, Nicolas Richard, G. Weryha, Arthur Sorlin, Glenville Jones, Marie‐Laure Kottler, François Feillet

    Vydáno 2017
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  7. 7
    <i>CYP24A1</i>Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait

    <i>CYP24A1</i>Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait Autor Arnaud Molin, R. Baudoin, Martin Kaufmann, J.-C. Souberbielle, Amélie Ryckewaert, Marie‐Christine Vantyghem, P. Eckart, Justine Bacchetta, Georges Deschênes, G. Kesler-Roussey, Nadia Coudray, Nicolas Richard, M. Wraich, Q. Bonafiglia, Anatoly Tiulpakov, Glenville Jones, Marie‐Laure Kottler

    Vydáno 2015
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  8. 8
    Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage

    Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage Autor Marie‐Louise Frémond, Marie Legendre, Michaël Fayon, Annick Clément, Emilie Filhol-Blin, Nicolas Richard, Laura Berdah, Sylvie Roullaud, Gillian Rice, Vincent Bondet, Darragh Duffy, Chiara Siléo, Hubert Ducou Le Pointe, Hugues Begueret, Aurore Coulomb, Bénédicte Neven, Serge Amselem, Yanick J. Crow, Nadia Nathan

    Vydáno 2019
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  9. 9
    Effectiveness and Safety of Upadacitinib Induction Therapy for 223 Patients With Crohn's Disease: A <scp>GETAID</scp> Multicentre Cohort Study

    Effectiveness and Safety of Upadacitinib Induction Therapy for 223 Patients With Crohn's Disease: A <scp>GETAID</scp> Multicentre Cohort Study Autor Nicolas Richard, Aurélien Amiot, Philippe Marteau, Romain Altwegg, David Laharie, Lucine Vuitton, Maria Nachury, Guillaume Bouguen, Stéphane Nancey, Cyrielle Gilletta, Cléa Rouilon, Benoît Coffin, Matthieu Allez, Anthony Buisson, Catherine Le Berre, Mathieu Uzzan, Ludovic Caillo, Matthieu Lilamand, Laurent Peyrin–Biroulet, Mathurin Fuméry

    Vydáno 2025
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  10. 10
    An Apoptosis Methylation Prognostic Signature for Early Lung Cancer in the IFCT-0002 Trial

    An Apoptosis Methylation Prognostic Signature for Early Lung Cancer in the IFCT-0002 Trial Autor Florence de Fraipont, Guénaëlle Levallet, Christian Créveuil, Emmanuel Bergot, Michèle Beau‐Faller, Mounia Mounawar, Nicolas Richard, Martine Antoine, Isabelle Rouquette, Marie‐Christine Favrot, D. Debieuvre, Denis Braun, Virginie Westeel, Élisabeth Quoix, Élisabeth Brambilla, Pierre Hainaut, Denis Moro‐Sibilot, Franck Morin, B. Milleron, Gérard Zalcman

    Vydáno 2012
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  11. 11
    InnateDB: facilitating systems‐level analyses of the mammalian innate immune response

    InnateDB: facilitating systems‐level analyses of the mammalian innate immune response Autor David J. Lynn, Geoffrey L. Winsor, Calvin C. Chan, Nicolas Richard, Matthew R. Laird, Aaron Barsky, Jennifer L. Gardy, Fiona Roche, Timothy H.W. Chan, Naisha Shah, Raymond Lo, Misbah Naseer, Jaimmie Que, Melissa Yau, M. Acab, Dan Tulpan, Matthew D. Whiteside, Avinash Chikatamarla, Bernadette Mah, Tamara Munzner, Karsten Hokamp, Robert E. W. Hancock, Fiona S. L. Brinkman

    Vydáno 2008
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  12. 12
    Cross-Validation Study for Epidermal Growth Factor Receptor and KRAS Mutation Detection in 74 Blinded Non-small Cell Lung Carcinoma Samples: A Total of 5550 Exons Sequenced by 15 Molecular French Laboratories (Evaluation of the EGFR Mutation Status for the Administration of EGFR-TKIs in Non-Small Cell Lung Carcinoma [ERMETIC] Project—Part 1)

    Cross-Validation Study for Epidermal Growth Factor Receptor and KRAS Mutation Detection in 74 Blinded Non-small Cell Lung Carcinoma Samples: A Total of 5550 Exons Sequenced by 15 M... Autor Michèle Beau‐Faller, Armelle Degeorges, Estelle Rolland, Mounia Mounawar, Martine Antoine, Virginie Poulot, Audrey Mauguen, Véronique Barbu, Florence Coulet, Jean‐Luc Prétet, Ivan Bièche, Hélène Blons, Jean-Christophe Boyer, Marie‐Pierre Buisine, Florence de Fraipont, Sarab Lizard, Sylviane Olschwang, Patrick Saulnier, Delphine Prunier‐Mirebeau, Nicolas Richard, Claire Danel, Élisabeth Brambilla, C. Chouaïd, Gérard Zalcman, Pierre Hainaut, Stefan Michiels, J. Cadranel

    Vydáno 2011
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  13. 13
    Severe gastrointestinal disease in very early systemic sclerosis is associated with early mortality

    Severe gastrointestinal disease in very early systemic sclerosis is associated with early mortality Autor Nicolas Richard, Marie Hudson, Mianbo Wang, Geneviève Gyger, Susanna Proudman, Wendy Stevens, Mandana Nikpour, Murray Baron, Marie Hudson, Geneviève Gyger, Janet Pope, Maggie Larché, Nader Khalidi, A. Masetto, Evelyn Sutton, David Robinson, T.S. Rodríguez-Reyna, D.P. Smith, Carter Thorne, Paul R. Fortin, M J Fritzler, Lucy Croyle, José de Jager, Nava Ferdowsi, Catherine Hill, R Laurent, Sue Lester, Gabor Major, Kathleen Morrisroe, Peter Nash, Gene Siew Ngian, Mandana Nikpour, Susanna Proudman, Maureen Rischmueller, Janet Roddy, J. Sahhar, Leslie Schrieber, Wendy Stevens, G. Thomas Strickland, Allan Sturgess, Vivek Thakkar, Kathleen Tymms, Jenny Walker, P. Youseff, Jane Zochling, Murray Baron

    Vydáno 2018
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  14. 14
    Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

    Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders Autor Hui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews, Tomasz J. Nowakowski, Madelyn A. Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H. Willemsen, Bregje W.M. van Bon, Tuula Rinne, Servi J.C. Stevens, Tjitske Kleefstra, Han G. Brunner, Helger G. Yntema, Long Min, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E. Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U. Dhar, Deanna Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Paweł Stankiewicz, Kristin Herman, Saadet Mercimek‐Andrews, Jane Juusola, Amy Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C. Mefford, Alison M. Muir, Ingrid E. Scheffer, Brigid M. Regan, Stephen Malone, Jozef Gécz, Jan Cobben, Marjan M. Weiss, Quinten Waisfisz, Emilia Bijlsma, Mariette J. V. Hoffer, Claudia Ruivenkamp, Stefano Sartori, Fan Xia, Jill Rosenfeld, Raphael Bernier, Michael F. Wangler, Shinya Yamamoto, Kun Xia, Alexander P.A. Stegmann, Hugo J. Bellen, Alessandra Murgia, Evan E. Eichler

    Vydáno 2019
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  15. 15
    Incidence, prevalence and clinical presentation of inflammatory bowel diseases in Northern France: a 30-year population-based study

    Incidence, prevalence and clinical presentation of inflammatory bowel diseases in Northern France: a 30-year population-based study Autor Hélène Sarter, Thibaut Crétin, Guillaume Savoye, Mathurin Fumery, Ariane Leroyer, Luc Dauchet, Thierry Paupard, Hugues Coevoet, Pauline Wils, Nicolas Richard, Dominique Turck, Delphine Ley, Corinne Gower‐Rousseau, Eric Agoute, Najib Al Ghossaini, Raied Al Hameedi, Maria Khatib, SA Turk, Jean‐Marie André, Matthieu Antoine, Michel Antonietti, A Aouakli, Laura Armengol‐Debeir, I Aroichane, Fadi Assi, É. Auxenfants, Alina Avram, Kassem Azzouzi, D Bankovski, B Barbry, Nicolas Bardoux, Philippe Baron, A Baudet, Pauline Bayart, B Bazin, A Bebahani, J P Becqwort, Houssem Ben Ali, E Ben Soussan, Coralie Bénard, V Benet, Corinne Benguigui, Abdeslam Bental, Sara Bentaleb-Bellati, I. Berkelmans, J. Bernet, K Bernou, Nathalie Bertiaux-Vandaële, P Bertot, Valérie Bertrand, Emilie Biloud, Nathalie Biron, Benjamin Bismuth, C. Blanchard, M Bleuez, F Blondel, Valérie Blondin, Mariusz Bobula, Philippe Bohont, Eléonore Boivin, V. B. Djemah, E Boniface, P Bonnière, P Bonvarlet, Arnaud Boruchowicz, R Bostvironnois, Médina Boualit, Ahlem Bouazza, B. Bouché, Christian Boudailler, C Bourgeaux, Morgane Bourgeois-Fumery, Aurélie Bourguet, A Bourienne, Hamza Boutaleb, Alexis Bouthors, Julien Branche, Franck Brazier, Marie Bridenne, Hélène Brihier, Laura Bril, P. Bulois, P Burgiere, J Butel, Jean–Yves Canva, V. Canva-Delcambre, Florence Cardot, Sandrine Carette, P. Carpentier, M Cassagnou, J F Cassar, F. Castex, Pascale Catala, Stéphane Cattan, Sylviane Catteau, B Caujolle, G Cayron, C Chandelier, Cloé Charpentier, M Chavance-Thelu

    Vydáno 2024
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