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Isabelle Touitou

Showing results (81-90 of 121) with videos related to

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Journal of Assisted Reproduction and Genetics|June 28, 2020
Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnanciesClaire Cozette, Florence Scheffler, Melyne Lombart, et al.
Seminars in Arthritis and Rheumatism|February 6, 2007
MEFV mutations in Tunisian patients suffering from familial Mediterranean feverHabiba Bouhamed Chaabouni, Mohamed Ksantini, Ridha M'rad, et al.
European Journal of Human Genetics : EJHG|December 13, 2012
Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7Ramesh Reddy, Elie Akoury, Ngoc Minh Phuong Nguyen, et al.
Human Mutation|August 10, 2004
Infevers: an evolving mutation database for auto-inflammatory syndromesIsabelle Touitou, Suzanne Lesage, Michael McDermott, et al.
Medicine|October 5, 2022
Evaluation of post-infectious inflammatory reactions in a retrospective study of 3 common invasive bacterial infections in pediatricsPauline Abraham, Gregory Marin, Anne Filleron, et al.
Blood|June 20, 2003
Allogenic bone marrow transplantation: not a treatment yet for familial Mediterranean feverIsabelle Touitou, Eldad Ben-Chetrit, Ruth Gershoni-Baruch, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneityFrédéric Tran Mau-Them, Aurélia Boualam, Mouna Barat-Houari, et al.
Rheumatology (Oxford, England)|February 8, 2014
International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patientsMichaël Hofer, Pascal Pillet, Marie-Madeleine Cochard, et al.
European Journal of Human Genetics : EJHG|July 24, 2008
Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centresMarielle E van Gijn, Stéphan Soler, Claire de la Chapelle, et al.
Journal of Medical Genetics|March 31, 2018
New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)Marielle E Van Gijn, Isabella Ceccherini, Yael Shinar, et al.
Pageof 13

Showing results (81-90 of 121) with videos related to

Sort By:
Pageof 13
Journal of Assisted Reproduction and Genetics|June 28, 2020
Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnanciesClaire Cozette, Florence Scheffler, Melyne Lombart, et al.
Seminars in Arthritis and Rheumatism|February 6, 2007
MEFV mutations in Tunisian patients suffering from familial Mediterranean feverHabiba Bouhamed Chaabouni, Mohamed Ksantini, Ridha M'rad, et al.
European Journal of Human Genetics : EJHG|December 13, 2012
Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7Ramesh Reddy, Elie Akoury, Ngoc Minh Phuong Nguyen, et al.
Human Mutation|August 10, 2004
Infevers: an evolving mutation database for auto-inflammatory syndromesIsabelle Touitou, Suzanne Lesage, Michael McDermott, et al.
Medicine|October 5, 2022
Evaluation of post-infectious inflammatory reactions in a retrospective study of 3 common invasive bacterial infections in pediatricsPauline Abraham, Gregory Marin, Anne Filleron, et al.
Blood|June 20, 2003
Allogenic bone marrow transplantation: not a treatment yet for familial Mediterranean feverIsabelle Touitou, Eldad Ben-Chetrit, Ruth Gershoni-Baruch, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneityFrédéric Tran Mau-Them, Aurélia Boualam, Mouna Barat-Houari, et al.
Rheumatology (Oxford, England)|February 8, 2014
International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patientsMichaël Hofer, Pascal Pillet, Marie-Madeleine Cochard, et al.
European Journal of Human Genetics : EJHG|July 24, 2008
Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centresMarielle E van Gijn, Stéphan Soler, Claire de la Chapelle, et al.
Journal of Medical Genetics|March 31, 2018
New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)Marielle E Van Gijn, Isabella Ceccherini, Yael Shinar, et al.
Pageof 13