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

Isabella Ceccherini

Showing results (121-130 of 180) with videos related to

Pageof 18
Sort By:
European Journal of Human Genetics : EJHG|November 13, 2004
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent feverAndrea D'Osualdo, Paolo Picco, Francesco Caroli, et al.
RMD Open|August 10, 2025
Predictive factors for therapeutic response and cluster analysis in syndrome of undifferentiated recurrent fever (SURF)Serena Palmeri, Marta Ponzano, Giada Recchi, et al.
Genes|July 27, 2022
Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic <i>TREX1</i> Missense Variants Affecting the Catalytic CoreGiulia Amico, Wayne O Hemphill, Mariasavina Severino, et al.
Plos One|March 26, 2013
Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patientsMarta Rusmini, Paola Griseri, Francesca Lantieri, et al.
Annals of the Rheumatic Diseases|May 15, 2012
Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian populationSilvia Federici, Giuseppina Calcagno, Martina Finetti, et al.
Journal of Pediatric Hematology/Oncology|December 27, 2019
Unusual Late-onset Enteropathy in a Patient With Lipopolysaccharide-responsive Beige-like Anchor Protein DeficiencyRosario Maggiore, Alice Grossi, Francesca Fioredda, et al.
Annals of the Rheumatic Diseases|September 20, 2015
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseasesMarta Rusmini, Silvia Federici, Francesco Caroli, 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.
Rheumatology (Oxford, England)|April 28, 2021
The challenge of early diagnosis of autoimmune lymphoproliferative syndrome in children with suspected autoinflammatory/autoimmune disordersLeonardo Oliveira Mendonça, Caterina Matucci-Cerinic, Paola Terranova, et al.
International Journal of Molecular Sciences|April 30, 2021
The <i>OSMR</i> Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream SignalingTiziana Bachetti, Francesca Rosamilia, Martina Bartolucci, et al.
Pageof 18

Showing results (121-130 of 180) with videos related to

Sort By:
Pageof 18
European Journal of Human Genetics : EJHG|November 13, 2004
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent feverAndrea D'Osualdo, Paolo Picco, Francesco Caroli, et al.
RMD Open|August 10, 2025
Predictive factors for therapeutic response and cluster analysis in syndrome of undifferentiated recurrent fever (SURF)Serena Palmeri, Marta Ponzano, Giada Recchi, et al.
Genes|July 27, 2022
Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic <i>TREX1</i> Missense Variants Affecting the Catalytic CoreGiulia Amico, Wayne O Hemphill, Mariasavina Severino, et al.
Plos One|March 26, 2013
Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patientsMarta Rusmini, Paola Griseri, Francesca Lantieri, et al.
Annals of the Rheumatic Diseases|May 15, 2012
Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian populationSilvia Federici, Giuseppina Calcagno, Martina Finetti, et al.
Journal of Pediatric Hematology/Oncology|December 27, 2019
Unusual Late-onset Enteropathy in a Patient With Lipopolysaccharide-responsive Beige-like Anchor Protein DeficiencyRosario Maggiore, Alice Grossi, Francesca Fioredda, et al.
Annals of the Rheumatic Diseases|September 20, 2015
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseasesMarta Rusmini, Silvia Federici, Francesco Caroli, 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.
Rheumatology (Oxford, England)|April 28, 2021
The challenge of early diagnosis of autoimmune lymphoproliferative syndrome in children with suspected autoinflammatory/autoimmune disordersLeonardo Oliveira Mendonça, Caterina Matucci-Cerinic, Paola Terranova, et al.
International Journal of Molecular Sciences|April 30, 2021
The <i>OSMR</i> Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream SignalingTiziana Bachetti, Francesca Rosamilia, Martina Bartolucci, et al.
Pageof 18