Αποτελέσματα αναζήτησης - Isabelle Touitou
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Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey από Linda Rossi‐Semerano, Bruno Fautrel, Daniel Wendling, É. Hachulla, Caroline Galeotti, Luca Semerano, Isabelle Touitou, Isabelle Koné‐Paut
Έκδοση 2015Artigo -
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Circulating miRNA-125b Is a Potential Biomarker Predicting Response to Rituximab in Rheumatoid Arthritis από Isabelle Duroux-Richard, Yves‐Marie Pers, Sylvie Fabre, Meryem Ammari, Dominique Baeten, Guillaume Cartron, Isabelle Touitou, Christian Jørgensen, Florence Apparailly
Έκδοση 2014Artigo -
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ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters από Florence Uettwiller, Guillaume Sarrabay, Mathieu P. Rodero, Gillian Rice, Emmanuelle Lagrue, Y. Marot, Kumaran Deiva, Isabelle Touitou, Yanick J. Crow, Pierre Quartier
Έκδοση 2016Artigo -
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Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF) από 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
Έκδοση 1998Artigo -
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The infevers autoinflammatory mutation online registry: update with new genes and functions από 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
Έκδοση 2008Artigo -
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Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7 από 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
Έκδοση 2012Artigo -
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MEFV mutations in Beh�et's disease από 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
Έκδοση 2000Artigo -
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International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients από 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
Έκδοση 2014Artigo -
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New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (I... από 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
Έκδοση 2018Artigo -
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Infevers: An evolving mutation database for auto-inflammatory syndromes από 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
Έκδοση 2004Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
Medicine
Biology
Gene
Genetics
Mutation
Disease
Internal medicine
Familial Mediterranean fever
Gene mutation
MEFV
Immunology
Genotype
Pathology
Phenotype
Allele
Computational biology
Exon
Haplotype
Inflammasome
Pediatrics
Bioinformatics
Dermatology
Genetic testing
Genotype-phenotype distinction
Inflammation
Pyrin domain
Arthritis
Compound heterozygosity
Computer science
Family medicine