Kết quả tìm kiếm - Isabelle Touitou
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The spectrum of Familial Mediterranean Fever (FMF) mutations Bằng Isabelle Touitou
Được phát hành 2001Revisão -
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Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature Bằng Isabelle Touitou
Được phát hành 2013Revisão -
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The significance of carrying <i>MEFV</i> variants in symptomatic and asymptomatic individuals Bằng Eldad Ben‐Chetrit, Isabelle Touitou
Được phát hành 2024Revisão -
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Autoinflammatory gene mutations in Behcet's disease Bằng Isabelle Koné‐Paut, Elodie Sanchez, A. Le Quellec, Raffaele Manna, Isabelle Touitou
Được phát hành 2007Artigo -
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Circulating miRNA-125b Is a Potential Biomarker Predicting Response to Rituximab in Rheumatoid Arthritis Bằng Isabelle Duroux-Richard, Yves‐Marie Pers, Sylvie Fabre, Meryem Ammari, Dominique Baeten, Guillaume Cartron, Isabelle Touitou, Christian Jørgensen, Florence Apparailly
Được phát hành 2014Artigo -
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ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters Bằng Florence Uettwiller, Guillaume Sarrabay, Mathieu P. Rodero, Gillian Rice, Emmanuelle Lagrue, Y. Marot, Kumaran Deiva, Isabelle Touitou, Yanick J. Crow, Pierre Quartier
Được phát hành 2016Artigo -
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Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF) Bằng 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
Được phát hành 1998Artigo -
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The infevers autoinflammatory mutation online registry: update with new genes and functions Bằng 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
Được phát hành 2008Artigo -
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Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7 Bằng 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
Được phát hành 2012Artigo -
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International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients Bằng 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
Được phát hành 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... Bằng 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
Được phát hành 2018Artigo -
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Infevers: An evolving mutation database for auto-inflammatory syndromes Bằng 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
Được phát hành 2004Artigo
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Các môn học liên quan
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