Ngā hua rapu - Isabelle Touitou

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  1. 1
    The spectrum of Familial Mediterranean Fever (FMF) mutations

    The spectrum of Familial Mediterranean Fever (FMF) mutations mā Isabelle Touitou

    I whakaputaina 2001
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  2. 2
    Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature

    Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature mā Isabelle Touitou

    I whakaputaina 2013
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  3. 3
    The significance of carrying <i>MEFV</i> variants in symptomatic and asymptomatic individuals

    The significance of carrying <i>MEFV</i> variants in symptomatic and asymptomatic individuals mā Eldad Ben‐Chetrit, Isabelle Touitou

    I whakaputaina 2024
    Whiwhi kuputuhi katoa
    Revisão
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  4. 4
    Autoinflammatory gene mutations in Behcet's disease

    Autoinflammatory gene mutations in Behcet's disease mā Isabelle Koné‐Paut, Elodie Sanchez, A. Le Quellec, Raffaele Manna, Isabelle Touitou

    I whakaputaina 2007
    Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    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 mā Mouna Barat‐Houari, Guillaume Sarrabay, Vincent Gâtinois, Aurélie Fabre, Bruno Dumont, David Geneviève, Isabelle Touitou

    I whakaputaina 2015
    Whiwhi kuputuhi katoa
    Revisão
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  6. 6
    The clinical spectrum of 94 patients carrying a single mutated MEFV allele

    The clinical spectrum of 94 patients carrying a single mutated MEFV allele mā Isabelle Koné-Paut, V. Hentgen, S. Guillaume-Czitrom, Sandrine Compeyrot‐Lacassagne, Tú-Anh Tran, Isabelle Touitou

    I whakaputaina 2009
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    The MICA region determines the first modifier locus in familial Mediterranean fever

    The MICA region determines the first modifier locus in familial Mediterranean fever mā Isabelle Touitou, Marie‐Christine Picot, C�cile Domingo, Cécile Notarnicola, D Cattan, Jacques Demaille, Isabelle Kon�-Paut

    I whakaputaina 2001
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients

    A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients mā L. Fédérici, C Rittore-Domingo, Isabelle Kone-Paut, Christian Jørgensen, M. Rodière, A. Le Quellec, Isabelle Touitou

    I whakaputaina 2006
    Whiwhi kuputuhi katoa
    Artigo
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  9. 9
    Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study

    Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study mā Eldad Ben‐Chetrit, Marco Gattorno, Ahmet Gül, Daniel L. Kastner, Helen J. Lachmann, Isabelle Touitou, Nicolino Ruperto

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  10. 10
    Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey

    Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey mā Linda Rossi‐Semerano, Bruno Fautrel, Daniel Wendling, É. Hachulla, Caroline Galeotti, Luca Semerano, Isabelle Touitou, Isabelle Koné‐Paut

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  11. 11
    Circulating miRNA-125b Is a Potential Biomarker Predicting Response to Rituximab in Rheumatoid Arthritis

    Circulating miRNA-125b Is a Potential Biomarker Predicting Response to Rituximab in Rheumatoid Arthritis mā Isabelle Duroux-Richard, Yves‐Marie Pers, Sylvie Fabre, Meryem Ammari, Dominique Baeten, Guillaume Cartron, Isabelle Touitou, Christian Jørgensen, Florence Apparailly

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  12. 12
    Familial Mediterranean fever is no longer a rare disease in Italy

    Familial Mediterranean fever is no longer a rare disease in Italy mā Micaela La Regina, Gabriella Nucera, M. Diaco, Antonio Domenico Procopio, Antonio Gasbarrini, Cécile Notarnicola, Isabelle Koné‐Paut, Isabelle Touitou, Raffaele Manna

    I whakaputaina 2003
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  13. 13
    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 mā Florence Uettwiller, Guillaume Sarrabay, Mathieu P. Rodero, Gillian Rice, Emmanuelle Lagrue, Y. Marot, Kumaran Deiva, Isabelle Touitou, Yanick J. Crow, Pierre Quartier

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  14. 14
    Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF)

    Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF) mā Marie Dewalle, Cécile Domingo, M Rozenbaum, Eldad Ben‐Chetrit, D Cattan, Alain Bernot, Christiane Dross, Madeleine Dupont, Cécile Notarnicola, Micha Levy, Itzhak Rosner, Jacques Demaille, Isabelle Touitou

    I whakaputaina 1998
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  15. 15
    The infevers autoinflammatory mutation online registry: update with new genes and functions

    The infevers autoinflammatory mutation online registry: update with new genes and functions mā Florian Milhavet, Laurence Cuisset, Hal M. Hoffman, Rima Slim, Hatem El‐Shanti, Ivona Aksentijevich, Suzanne Lesage, Hans R. Waterham, Carol A. Wise, Cyril Sarrauste de Menthière, Isabelle Touitou

    I whakaputaina 2008
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  16. 16
    Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7

    Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7 mā Ramesh Reddy, Elie Akoury, Ngoc Minh Nguyen, Omar Abdul‐Rahman, Christine Déry, Neerja Gupta, William P. Daley, Asangla Ao, Hanène Landolsi, Rosemary A. Fisher, Isabelle Touitou, Rima Slim

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  17. 17
    MEFV mutations in Beh�et's disease

    MEFV mutations in Beh�et's disease mā Isabelle Touitou, Xavier Magne, Nicolas Molinari, Andr� Navarro, Alain Le Quellec, Paolo Picco, Marco Seri, Seza Özen, Ayşı̇n Bakkaloğlu, Ayşen Karaduman, J.M. Garnier, Jacques Demaille, Isabelle Kon�-Paut

    I whakaputaina 2000
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  18. 18
    International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients

    International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients mā Michaël Hofer, Pascal Pillet, M. Cochard, Stefan Berg, Petra Król, Isabelle Koné‐Paut, Donato Rigante, Véronique Hentgen, Jordi Antón, R Brik, B. Neven, Isabelle Touitou, D. Kaiser, Alyette Duquesne, Carine Wouters, Marco Gattorno

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  19. 19
    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... mā 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

    I whakaputaina 2018
    Whiwhi kuputuhi katoa
    Artigo
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  20. 20
    Infevers: An evolving mutation database for auto-inflammatory syndromes

    Infevers: An evolving mutation database for auto-inflammatory syndromes mā Isabelle Touitou, Suzanne Lesage, Michael McDermott, Laurence Cuisset, Hal M. Hoffman, Catherine Dodé, Nitza G. Shoham, Ebun Aganna, Jean‐Pierre Hugot, Carol A. Wise, Hans R. Waterham, D. Pugnére, Jacques Demaille, Cyril Sarrauste de Menthière

    I whakaputaina 2004
    Whiwhi kuputuhi katoa
    Artigo
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