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Isabella Ceccherini

Showing results (101-110 of 180) with videos related to

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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.
Genes|September 28, 2021
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity PatientsAlice Grossi, Maurizio Miano, Marina Lanciotti, et al.
The FEBS Journal|January 24, 2026
Regulation of PHOX2B gene expression by the long non-coding natural antisense RNA PHOX2B-AS1Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, et al.
Frontiers in Immunology|June 3, 2022
Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre AnalysisMaurizio Miano, Daniela Guardo, Alice Grossi, et al.
International Journal of Molecular Sciences|December 11, 2022
Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a <i>TINF2</i> VariantBenedetta Chianucci, Alice Grossi, Gianluca Dell'Orso, et al.
European Journal of Human Genetics : EJHG|May 13, 2004
Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2Grzegorz M Burzynski, Ilja M Nolte, Jan Osinga, et al.
European Journal of Human Genetics : EJHG|May 17, 2007
Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genesSilvia Borghini, Marco Di Duca, Giuseppe Santamaria, et al.
Clinical Genetics|December 9, 2020
Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstructionIvana Matera, Domenico Bordo, Marco Di Duca, 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.
Journal of Pediatric Hematology/Oncology|February 24, 2021
Underlying CTLA4 Deficiency in a Patient With Juvenile Idiopathic Arthritis and Autoimmune Lymphoproliferative Syndrome Features Successfully Treated With Abatacept-A Case ReportMarta Mazzoni, Gianluca Dell'Orso, Alice Grossi, et al.
Pageof 18

Showing results (101-110 of 180) with videos related to

Sort By:
Pageof 18
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.
Genes|September 28, 2021
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity PatientsAlice Grossi, Maurizio Miano, Marina Lanciotti, et al.
The FEBS Journal|January 24, 2026
Regulation of PHOX2B gene expression by the long non-coding natural antisense RNA PHOX2B-AS1Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, et al.
Frontiers in Immunology|June 3, 2022
Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre AnalysisMaurizio Miano, Daniela Guardo, Alice Grossi, et al.
International Journal of Molecular Sciences|December 11, 2022
Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a <i>TINF2</i> VariantBenedetta Chianucci, Alice Grossi, Gianluca Dell'Orso, et al.
European Journal of Human Genetics : EJHG|May 13, 2004
Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2Grzegorz M Burzynski, Ilja M Nolte, Jan Osinga, et al.
European Journal of Human Genetics : EJHG|May 17, 2007
Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genesSilvia Borghini, Marco Di Duca, Giuseppe Santamaria, et al.
Clinical Genetics|December 9, 2020
Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstructionIvana Matera, Domenico Bordo, Marco Di Duca, 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.
Journal of Pediatric Hematology/Oncology|February 24, 2021
Underlying CTLA4 Deficiency in a Patient With Juvenile Idiopathic Arthritis and Autoimmune Lymphoproliferative Syndrome Features Successfully Treated With Abatacept-A Case ReportMarta Mazzoni, Gianluca Dell'Orso, Alice Grossi, et al.
Pageof 18