检索结果 - Guillaume Sarrabay

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  1. 1
    Systemic autoinflammatory diseases: Clinical state of the art

    Systemic autoinflammatory diseases: Clinical state of the art 由 Sophie Georgin‐Lavialle, Stéphanie Ducharme‐Bénard, Guillaume Sarrabay, Léa Savey, Gilles Grateau, Véronique Hentgen

    出版 2020
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  2. 2
    Mutation Update for<i>COL2A1</i>Gene Variants Associated with Type II Collagenopathies

    Mutation Update for<i>COL2A1</i>Gene Variants Associated with Type II Collagenopathies 由 Mouna Barat‐Houari, Guillaume Sarrabay, Vincent Gâtinois, Aurélie Fabre, Bruno Dumont, David Geneviève, Isabelle Touitou

    出版 2015
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  3. 3
    ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters

    ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters 由 Florence Uettwiller, Guillaume Sarrabay, Mathieu P. Rodero, Gillian Rice, Emmanuelle Lagrue, Y. Marot, Kumaran Deiva, Isabelle Touitou, Yanick J. Crow, Pierre Quartier

    出版 2016
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  4. 4
    New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)

    New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (I... 由 Marielle E van Gijn, Isabella Ceccherini, Yael Shinar, Ellen C. Carbo, Mariska Slofstra, Juan I. Aróstegui, Guillaume Sarrabay, Dorota Rowczenio, Ebun Omoyımnı, Banu Balcı‐Peynircioğlu, Hal M. Hoffman, Florian Milhavet, Morris A. Swertz, Isabelle Touitou

    出版 2018
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  5. 5
    PSMB10, the last immunoproteasome gene missing for PRAAS

    PSMB10, the last immunoproteasome gene missing for PRAAS 由 Guillaume Sarrabay, Déborah Méchin, Aïcha Salhi, Guilaine Boursier, Cécile Rittore, Yanick J. Crow, Gillian Rice, Tú-Anh Tran, Renaud Cezar, Darragh Duffy, Vincent Bondet, Lakhdar Boudhane, Christophe Broca, Benjamin Kant, Mariëlle VanGijn, Sylvie Grandemange, Eric Richard, Florence Apparailly, Isabelle Touitou

    出版 2019
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  6. 6
    A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

    A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience 由 Mélanie Rama, Claire Duflos, Isabelle Melki, D. Bessis, A. Bonhomme, Hélène Martin, Diane Doummar, Stéphanie Valence, Diana Rodriguez, Emilie Carme, David Geneviève, Ketil Heimdal, Antonella Insalaco, Nathalie Franck, Viviane Queyrel‐Moranne, N. Tieulié, Jonathan London, Florence Uettwiller, Sophie Georgin‐Lavialle, Alexandre Bélot, Isabelle Koné‐Paut, Véronique Hentgen, Guilaine Boursier, Isabelle Touitou, Guillaume Sarrabay

    出版 2018
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  7. 7
    Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

    Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2 由 Nina Bögershausen, Vincent Gâtinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Şimşek‐Kiper, Mouna Barat‐Houari, Nursel Elçioğlu, Dagmar Wieczorek, Sigrid Tinschert, Guillaume Sarrabay, Tim M. Strom, Aurélie Fabre, Gareth Baynam, Elodie Sanchez, Gudrun Nürnberg, Umut Altunoğlu, Yline Capri, Bertrand Isidor, Didier Lacombe, Carole Corsini, Valérie Cormier‐Daire, Damien Sanlaville, Fabienne Giuliano, Kim‐Hanh Le Quan Sang, Honorine Kayirangwa, Peter Nürnberg, Thomas Meitinger, Koray Boduroğlu, Barbara Zoll, Stanislas Lyonnet, Andreas Tzschach, Alain Verloès, Nataliya Di Donato, Isabelle Touitou, Christian Netzer, Yun Li, David Geneviève, Gökhan Yigit, Bernd Wollnik

    出版 2016
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  8. 8
    Further characterization of clinical and laboratory features in VEXAS syndrome: large‐scale analysis of a multicentre case series of 116 French patients*

    Further characterization of clinical and laboratory features in VEXAS syndrome: large‐scale analysis of a multicentre case series of 116 French patients* 由 Sophie Georgin‐Lavialle, Benjamin Terrier, Alexis F. Guédon, Maël Heiblig, T. Comont, Estibaliz Lazaro, Valentin Lacombe, Louis Terriou, Samuel Ardois, Jean‐David Bouaziz, Alexis Mathian, G. Le Guenno, Achille Aouba, R. Outh, A. Meyer, Marielle Roux‐Sauvat, Mikaël Ebbo, Lin‐Pierre Zhao, A. Bigot, Yvan Jamilloux, Vivien Guillotin, Edouard Flamarion, Pierrick Henneton, Guillaume Vial, Vincent Jachiet, Julien Rossignol, S. Vinzio, Thierry Weitten, J. Vinit, C. Deligny, S. Humbert, Maxime Samson, N. Magy‐Bertrand, T. Moulinet, R. Bourguiba, Thomas Hanslik, Claude Bachmeyer, Marie Sébert, Marie Kostine, Boris Bienvenu, P. Biscay, É. Liozon, L. Sailler, François Chasset, Alexandra Audemard‐Verger, Eugénie Duroyon, Guillaume Sarrabay, Felippe Borlot, C. Diéval, Thomas Cluzeau, Paola Marianetti, Hervé Lobbes, Guilaine Boursier, Mathieu Gerfaud‐Valentin, Juliette Jeannel, Amélie Servettaz, S. Audia, M. Larue, Basile Henriot, B. Faucher, J. Graveleau, B. De Sainte Marie, Joris Galland, Laurence Bouillet, Catherine Arnaud, Lionel Adès, Fabrice Carrat, Pierre Hirsch, Pierre Fenaux, O. Fain, Pierre Sujobert, Olivier Kosmider, A. Mékinian

    出版 2021
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  9. 9
    Clinical and pathological features of cutaneous manifestations in VEXAS syndrome: A multicenter retrospective study of 59 cases

    Clinical and pathological features of cutaneous manifestations in VEXAS syndrome: A multicenter retrospective study of 59 cases 由 Ève Zakine, Loula Papageorgiou, R. Bourguiba, A. Mékinian, Benjamin Terrier, Olivier Kosmider, Pierre Hirsch, M. Jachiet, S. Audia, Samuel Ardois, Léopold Adélaïde, A. Bigot, P. Duriez, Jean‐François Emile, Estibaliz Lazaro, Damien Fayard, J. Galland, Anne‐Sophie Moreau, S. Humbert, Alexis Jean, Marie Kostine, Valentin Lacombe, G. Le Guenno, Hervé Lobbes, N. Magy‐Bertrand, Paola Marianetti-Guingel, Alexis Mathian, R. Outh, Clémence Saillard, Maxime Samson, Guillaume Vial, Jean‐David Bouaziz, Philippe Moguelet, François Chasset, Z. Amoura, Achille Aouba, Catherine Arnaud, Alexandra Audemard‐Verger, Claude Bachmeyer, Boris Bienvenu, P. Biscay, Felippe Borlot, Laurence Bouillet, Guilaine Boursier, Fabrice Carrat, Thomas Cluzeau, T. Comont, Arnaud Constantin, B. De Sainte Marie, C. Deligny, C. Diéval, Eugénie Duroyon, Mikaël Ebbo, O. Fain, B. Faucher, Pierre Fenaux, Sophie Georgin‐Lavialle, Mathieu Gerfaud‐Valentin, J. Graveleau, Alexis F. Guédon, Thomas Hanslik, Maël Heiblig, Vincent Jachiet, Yvan Jamilloux, Juliette Jeannel, M. Larue, F. Le Pelletier, É. Liozon, A. Meyer, T. Moulinet, M. Pha, Julien Rossignol, M Roux, Murielle Roux-Sauvat, L. Sailler, Guillaume Sarrabay, Marie Sébert, Amélie Servettaz, Pierre Sujobert, Louis Terriou, J. Vinit, S. Vinzio, Thierry Weitten, Lin‐Pierre Zhao

    出版 2022
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