Хайлтын үр дүнгүүд - Isabelle Touitou
- 36-н 1 - 20 үр дүнгүүдийг харуулж байна
- Дараагийн хуудас руу очих
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The spectrum of Familial Mediterranean Fever (FMF) mutations -н Isabelle Touitou
Хэвлэсэн 2001Revisão -
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Circulating miRNA-125b Is a Potential Biomarker Predicting Response to Rituximab in Rheumatoid Arthritis -н Isabelle Duroux-Richard, Yves‐Marie Pers, Sylvie Fabre, Meryem Ammari, Dominique Baeten, Guillaume Cartron, Isabelle Touitou, Christian Jørgensen, Florence Apparailly
Хэвлэсэн 2014Artigo -
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ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters -н Florence Uettwiller, Guillaume Sarrabay, Mathieu P. Rodero, Gillian Rice, Emmanuelle Lagrue, Y. Marot, Kumaran Deiva, Isabelle Touitou, Yanick J. Crow, Pierre Quartier
Хэвлэсэн 2016Artigo -
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Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF) -н 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
Хэвлэсэн 1998Artigo -
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The infevers autoinflammatory mutation online registry: update with new genes and functions -н 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
Хэвлэсэн 2008Artigo -
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Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7 -н 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
Хэвлэсэн 2012Artigo -
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International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients -н 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
Хэвлэсэн 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... -н 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
Хэвлэсэн 2018Artigo -
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Infevers: An evolving mutation database for auto-inflammatory syndromes -н 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
Хэвлэсэн 2004Artigo
Хайх хэрэгслүүд:
Холбогдох сэдвүүд
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