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Isabella Ceccherini

Showing results (91-100 of 180) with videos related to

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International Journal of Molecular Sciences|July 29, 2025
Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in AdultsAlice Grossi, Grigorios Tsaknakis, Francesca Rosamilia, et al.
Molecular Therapy. Nucleic Acids|September 27, 2024
Identification of a histone deacetylase inhibitor as a therapeutic candidate for congenital central hypoventilation syndromeChiara Africano, Tiziana Bachetti, Paolo Uva, et al.
Genes|December 16, 2020
Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug ScreeningSimona Candiani, Silvia Carestiato, Andreas F Mack, et al.
Orphanet Journal of Rare Diseases|November 27, 2019
Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung diseaseFrancesca Lantieri, Stefania Gimelli, Chiara Viaggi, et al.
Frontiers in Neurology|November 30, 2019
A Novel Mutation of <i>GFAP</i> Causing Adult-Onset Alexander DiseaseAndrea Ciammola, Davide Sangalli, Jenny Sassone, 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.
Annals of the Rheumatic Diseases|November 3, 2012
Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS)Tiziana Bachetti, Sabrina Chiesa, Patrizio Castagnola, et al.
American Journal of Medical Genetics|October 31, 2002
Mutational analysis of the RNX gene in congenital central hypoventilation syndromeIvana Matera, Tiziana Bachetti, Roberta Cinti, et al.
Human Mutation|February 27, 2013
Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung diseaseIvana Matera, Marco Musso, Paola Griseri, 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.
Pageof 18

Showing results (91-100 of 180) with videos related to

Sort By:
Pageof 18
International Journal of Molecular Sciences|July 29, 2025
Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in AdultsAlice Grossi, Grigorios Tsaknakis, Francesca Rosamilia, et al.
Molecular Therapy. Nucleic Acids|September 27, 2024
Identification of a histone deacetylase inhibitor as a therapeutic candidate for congenital central hypoventilation syndromeChiara Africano, Tiziana Bachetti, Paolo Uva, et al.
Genes|December 16, 2020
Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug ScreeningSimona Candiani, Silvia Carestiato, Andreas F Mack, et al.
Orphanet Journal of Rare Diseases|November 27, 2019
Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung diseaseFrancesca Lantieri, Stefania Gimelli, Chiara Viaggi, et al.
Frontiers in Neurology|November 30, 2019
A Novel Mutation of <i>GFAP</i> Causing Adult-Onset Alexander DiseaseAndrea Ciammola, Davide Sangalli, Jenny Sassone, 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.
Annals of the Rheumatic Diseases|November 3, 2012
Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS)Tiziana Bachetti, Sabrina Chiesa, Patrizio Castagnola, et al.
American Journal of Medical Genetics|October 31, 2002
Mutational analysis of the RNX gene in congenital central hypoventilation syndromeIvana Matera, Tiziana Bachetti, Roberta Cinti, et al.
Human Mutation|February 27, 2013
Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung diseaseIvana Matera, Marco Musso, Paola Griseri, 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.
Pageof 18