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Life (Basel, Switzerland)|May 27, 2023
Next Generation Sequencing (NGS) Target Approach for Undiagnosed DysglycaemiaConcetta Aloi, Alessandro Salina, Francesco Caroli, et al.
American Journal of Medical Genetics. Part A|February 5, 2003
Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variabilityMonica Marini, Roberto Cusano, Pierangela De Biasio, et al.
European Journal of Human Genetics : EJHG|January 17, 2008
Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander diseaseTiziana Bachetti, Francesco Caroli, Paola Bocca, et al.
Frontiers in Immunology|November 12, 2019
A Bispecific Antibody to Link a TRAIL-Based Antitumor Approach to ImmunotherapyAlessandro Satta, Giulia Grazia, Francesco Caroli, et al.
Mabs|July 12, 2018
Design, selection and optimization of an anti-TRAIL-R2/anti-CD3 bispecific antibody able to educate T cells to recognize and destroy cancer cellsAlessandro Satta, Delia Mezzanzanica, Francesco Caroli, et al.
The Journal of Rheumatology|April 5, 2011
Candidate genes in patients with autoinflammatory syndrome resembling tumor necrosis factor receptor-associated periodic syndrome without mutations in the TNFRSF1A geneSilvia Borghini, Michele Fiore, Marco Di Duca, et al.
Genes|September 28, 2021
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity PatientsAlice Grossi, Maurizio Miano, Marina Lanciotti, et al.
Pediatric Rheumatology Online Journal|August 22, 2020
A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA)Leonardo Oliveira Mendonça, Alice Grossi, Francesco Caroli, et al.
Medicine|December 16, 2014
Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseasesAngelo V Marzano, Isabella Ceccherini, Marco Gattorno, et al.
Annals of Human Genetics|October 16, 2010
A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activitiesTiziana Bachetti, Eleonora Di Zanni, Francesca Lantieri, et al.
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