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Isabella Ceccherini

Showing results (111-120 of 180) with videos related to

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Orphanet Journal of Rare Diseases|May 3, 2013
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variantLaura Melchionda, Mingyan Fang, Hairong Wang, et al.
Frontiers in Immunology|November 1, 2021
Case Report: Deficiency of Adenosine Deaminase 2 Presenting With Overlapping Features of Autoimmune Lymphoproliferative Syndrome and Bone Marrow FailureGianluca Dell'Orso, Alice Grossi, Federica Penco, et al.
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.
Developmental Biology|July 19, 2016
Genetics of enteric neuropathiesErwin Brosens, Alan J Burns, Alice S Brooks, et al.
Journal of Neuroinflammation|February 26, 2013
An autoinflammatory neurological disease due to interleukin 6 hypersecretionEttore Salsano, Ambra Rizzo, Gloria Bedini, et al.
Frontiers in Immunology|February 14, 2018
CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic FeverRoberta Caorsi, Marta Rusmini, Stefano Volpi, et al.
Molecular Genetics and Metabolism|December 5, 2025
Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypesTiziana Bachetti, Ylenia Vaia, Alice Grossi, et al.
American Journal of Hematology|May 17, 2021
Genetic screening of children with marrow failure. The role of primary ImmunodeficienciesMaurizio Miano, Alice Grossi, Gianluca Dell'Orso, et al.
Molecular Genetics and Metabolism|December 6, 2021
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patientsEleonora Mura, Francesco Nicita, Silvia Masnada, et al.
Plos One|October 20, 2010
PHOX2B-mediated regulation of ALK expression: in vitro identification of a functional relationship between two genes involved in neuroblastomaTiziana Bachetti, Daniela Di Paolo, Simona Di Lascio, et al.
Pageof 18

Showing results (111-120 of 180) with videos related to

Sort By:
Pageof 18
Orphanet Journal of Rare Diseases|May 3, 2013
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variantLaura Melchionda, Mingyan Fang, Hairong Wang, et al.
Frontiers in Immunology|November 1, 2021
Case Report: Deficiency of Adenosine Deaminase 2 Presenting With Overlapping Features of Autoimmune Lymphoproliferative Syndrome and Bone Marrow FailureGianluca Dell'Orso, Alice Grossi, Federica Penco, et al.
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.
Developmental Biology|July 19, 2016
Genetics of enteric neuropathiesErwin Brosens, Alan J Burns, Alice S Brooks, et al.
Journal of Neuroinflammation|February 26, 2013
An autoinflammatory neurological disease due to interleukin 6 hypersecretionEttore Salsano, Ambra Rizzo, Gloria Bedini, et al.
Frontiers in Immunology|February 14, 2018
CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic FeverRoberta Caorsi, Marta Rusmini, Stefano Volpi, et al.
Molecular Genetics and Metabolism|December 5, 2025
Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypesTiziana Bachetti, Ylenia Vaia, Alice Grossi, et al.
American Journal of Hematology|May 17, 2021
Genetic screening of children with marrow failure. The role of primary ImmunodeficienciesMaurizio Miano, Alice Grossi, Gianluca Dell'Orso, et al.
Molecular Genetics and Metabolism|December 6, 2021
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patientsEleonora Mura, Francesco Nicita, Silvia Masnada, et al.
Plos One|October 20, 2010
PHOX2B-mediated regulation of ALK expression: in vitro identification of a functional relationship between two genes involved in neuroblastomaTiziana Bachetti, Daniela Di Paolo, Simona Di Lascio, et al.
Pageof 18