Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Isabelle Touitou

Showing results (111-120 of 121) with videos related to

Pageof 13
Sort By:
Annals of the Rheumatic Diseases|February 1, 2015
Evidence-based provisional clinical classification criteria for autoinflammatory periodic feversSilvia Federici, Maria Pia Sormani, Seza Ozen, et al.
The Journal of Allergy and Clinical Immunology. in Practice|November 12, 2020
INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever RegistryRiccardo Papa, Thirusha Lane, Kirsten Minden, et al.
Medicine|March 18, 2016
Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase DeficiencyCécile-Audrey Durel, Achille Aouba, Boris Bienvenu, et al.
The Journal of Clinical Investigation|November 15, 2024
Defects in meiosis I contribute to the genesis of androgenetic hydatidiform molesMaryam Rezaei, Manqi Liang, Zeynep Yalcin, et al.
The Journal of Experimental Medicine|March 26, 2024
Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammationCamille Cosson, Romane Riou, Danish Patoli, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|August 7, 2015
Musculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database studyLaetitia Houx, Eric Hachulla, Isabelle Kone-Paut, et al.
Human Mutation|June 16, 2016
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2Nina Bögershausen, Vincent Gatinois, Vera Riehmer, et al.
Annals of the Rheumatic Diseases|April 26, 2019
Classification criteria for autoinflammatory recurrent feversMarco Gattorno, Michael Hofer, Silvia Federici, et al.
European Journal of Human Genetics : EJHG|December 3, 2015
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotypeMouna Barat-Houari, Bruno Dumont, Aurélie Fabre, et al.
American Journal of Medical Genetics. Part A|December 27, 2019
Growth charts in Kabuki syndrome 1Valentin Ruault, Carole Corsini, Claire Duflos, et al.
Pageof 13

Showing results (111-120 of 121) with videos related to

Sort By:
Pageof 13
Annals of the Rheumatic Diseases|February 1, 2015
Evidence-based provisional clinical classification criteria for autoinflammatory periodic feversSilvia Federici, Maria Pia Sormani, Seza Ozen, et al.
The Journal of Allergy and Clinical Immunology. in Practice|November 12, 2020
INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever RegistryRiccardo Papa, Thirusha Lane, Kirsten Minden, et al.
Medicine|March 18, 2016
Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase DeficiencyCécile-Audrey Durel, Achille Aouba, Boris Bienvenu, et al.
The Journal of Clinical Investigation|November 15, 2024
Defects in meiosis I contribute to the genesis of androgenetic hydatidiform molesMaryam Rezaei, Manqi Liang, Zeynep Yalcin, et al.
The Journal of Experimental Medicine|March 26, 2024
Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammationCamille Cosson, Romane Riou, Danish Patoli, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|August 7, 2015
Musculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database studyLaetitia Houx, Eric Hachulla, Isabelle Kone-Paut, et al.
Human Mutation|June 16, 2016
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2Nina Bögershausen, Vincent Gatinois, Vera Riehmer, et al.
Annals of the Rheumatic Diseases|April 26, 2019
Classification criteria for autoinflammatory recurrent feversMarco Gattorno, Michael Hofer, Silvia Federici, et al.
European Journal of Human Genetics : EJHG|December 3, 2015
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotypeMouna Barat-Houari, Bruno Dumont, Aurélie Fabre, et al.
American Journal of Medical Genetics. Part A|December 27, 2019
Growth charts in Kabuki syndrome 1Valentin Ruault, Carole Corsini, Claire Duflos, et al.
Pageof 13