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Isabelle Touitou

Showing results (71-80 of 121) with videos related to

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Molecular Genetics & Genomic Medicine|April 1, 2017
Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotypeSylvie Grandemange, Sébastien Cabasson, Guillaume Sarrabay, et al.
Joint Bone Spine|November 25, 2018
New data in causes of autoinflammatory diseasesIsabelle Kone-Paut, Sophie Georgin-Laviallec, Caroline Galeotti, et al.
Joint Bone Spine|February 17, 2018
Boundaries between familial Mediterranean fever and juvenile spondyloarthritis: Analysis of three French retrospective cohortsBilade Cherqaoui, Linda Rossi-Semerano, Sophie Georgin-Lavialle, et al.
Journal of Clinical Medicine|October 23, 2019
Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory DiseasesGuilaine Boursier, Cécile Rittore, Sophie Georgin-Lavialle, et al.
Annals of the Rheumatic Diseases|December 10, 2020
Correspondence on 'Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases'Gonçalo Boleto, Carolla El Chamieh, Lucie Biard, et al.
Seminars in Arthritis and Rheumatism|June 8, 2013
Evidence-based recommendations for the practical management of Familial Mediterranean FeverVéronique Hentgen, Gilles Grateau, Isabelle Kone-Paut, et al.
Joint Bone Spine|December 2, 2011
TGF beta1 polymorphisms are candidate predictors of the clinical response to rituximab in rheumatoid arthritisClaire Immediato Daïen, Sylvie Fabre, Cécile Rittore, et al.
Critical Reviews in Clinical Laboratory Sciences|July 24, 2018
Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic reviewMarielle Labrousse, Charlotte Kevorkian-Verguet, Guilaine Boursier, et al.
Human Mutation|April 15, 2008
The infevers autoinflammatory mutation online registry: update with new genes and functionsFlorian Milhavet, Laurence Cuisset, Hal M Hoffman, et al.
Scientific Reports|February 19, 2021
TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPSCécile Rittore, Déborah Méchin, Elodie Sanchez, et al.
Pageof 13

Showing results (71-80 of 121) with videos related to

Sort By:
Pageof 13
Molecular Genetics & Genomic Medicine|April 1, 2017
Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotypeSylvie Grandemange, Sébastien Cabasson, Guillaume Sarrabay, et al.
Joint Bone Spine|November 25, 2018
New data in causes of autoinflammatory diseasesIsabelle Kone-Paut, Sophie Georgin-Laviallec, Caroline Galeotti, et al.
Joint Bone Spine|February 17, 2018
Boundaries between familial Mediterranean fever and juvenile spondyloarthritis: Analysis of three French retrospective cohortsBilade Cherqaoui, Linda Rossi-Semerano, Sophie Georgin-Lavialle, et al.
Journal of Clinical Medicine|October 23, 2019
Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory DiseasesGuilaine Boursier, Cécile Rittore, Sophie Georgin-Lavialle, et al.
Annals of the Rheumatic Diseases|December 10, 2020
Correspondence on 'Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases'Gonçalo Boleto, Carolla El Chamieh, Lucie Biard, et al.
Seminars in Arthritis and Rheumatism|June 8, 2013
Evidence-based recommendations for the practical management of Familial Mediterranean FeverVéronique Hentgen, Gilles Grateau, Isabelle Kone-Paut, et al.
Joint Bone Spine|December 2, 2011
TGF beta1 polymorphisms are candidate predictors of the clinical response to rituximab in rheumatoid arthritisClaire Immediato Daïen, Sylvie Fabre, Cécile Rittore, et al.
Critical Reviews in Clinical Laboratory Sciences|July 24, 2018
Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic reviewMarielle Labrousse, Charlotte Kevorkian-Verguet, Guilaine Boursier, et al.
Human Mutation|April 15, 2008
The infevers autoinflammatory mutation online registry: update with new genes and functionsFlorian Milhavet, Laurence Cuisset, Hal M Hoffman, et al.
Scientific Reports|February 19, 2021
TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPSCécile Rittore, Déborah Méchin, Elodie Sanchez, et al.
Pageof 13