Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Rheumatology (Oxford, England)|July 21, 2019
Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent feversRiccardo Papa, Marta Rusmini, Stefano Volpi, et al.
Clinical Chemistry|November 26, 2002
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technologyRosa Santacroce, Antonia Ratti, Francesco Caroli, et al.
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.
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.
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.
The Journal of Rheumatology|April 3, 2016
Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National StudyAldo Naselli, Federica Penco, Luca Cantarini, et al.
Arthritis and Rheumatism|April 29, 2008
The pattern of response to anti-interleukin-1 treatment distinguishes two subsets of patients with systemic-onset juvenile idiopathic arthritisMarco Gattorno, Alessandra Piccini, Denise Lasigliè, et al.
Cancers|March 29, 2023
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213Marzia Ognibene, Marcello Scala, Michele Iacomino, et al.
Journal of Clinical Immunology|November 16, 2021
Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis LocusAnnemarie Steiner, Thomas Reygaerts, Alessandra Pontillo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 11, 2025
Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansionsMaria Cerminara, Giovanni Spirito, Luca Pandolfini, et al.
Pageof 4