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Isabella Ceccherini

Showing results (141-150 of 180) with videos related to

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Arthritis and Rheumatism|October 31, 2009
The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic feverMassimo Ferretti, Marco Gattorno, Annalisa Chiocchetti, et al.
Stem Cell Research|December 20, 2025
Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B geneAna Lucia Cuadros Gamboa, Filippo Chiesa, Paride Pelucchi, et al.
Arthritis and Rheumatism|March 2, 2006
Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implicationsAndrea D'Osualdo, Francesca Ferlito, Ignazia Prigione, et al.
The Journal of Allergy and Clinical Immunology|June 14, 2019
A novel knock-in mouse model of cryopyrin-associated periodic syndromes with development of amyloidosis: Therapeutic efficacy of proton pump inhibitorsArinna Bertoni, Sonia Carta, Chiara Baldovini, et al.
Orphanet Journal of Rare Diseases|September 22, 2020
Guidelines for diagnosis and management of congenital central hypoventilation syndromeHa Trang, Martin Samuels, Isabella Ceccherini, et al.
European Journal of Human Genetics : EJHG|January 28, 2016
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstructionIvana Matera, Marta Rusmini, Yiran Guo, et al.
International Journal of Molecular Sciences|February 24, 2024
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the <i>SRSF4</i> GeneMaurizio Miano, Nadia Bertola, Alice Grossi, et al.
Orphanet Journal of Rare Diseases|November 26, 2013
A prospective observational study of associated anomalies in Hirschsprung's diseaseAlessio Pini Prato, Valentina Rossi, Manuela Mosconi, et al.
Clinical Immunology (Orlando, Fla.)|August 29, 2021
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD)Riccardo Papa, Marta Rusmini, Francesca Schena, et al.
European Journal of Human Genetics : EJHG|March 8, 2012
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung diseaseAnne-Sophie Jannot, Jeanne Amiel, Anna Pelet, et al.
Pageof 18

Showing results (141-150 of 180) with videos related to

Sort By:
Pageof 18
Arthritis and Rheumatism|October 31, 2009
The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic feverMassimo Ferretti, Marco Gattorno, Annalisa Chiocchetti, et al.
Stem Cell Research|December 20, 2025
Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B geneAna Lucia Cuadros Gamboa, Filippo Chiesa, Paride Pelucchi, et al.
Arthritis and Rheumatism|March 2, 2006
Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implicationsAndrea D'Osualdo, Francesca Ferlito, Ignazia Prigione, et al.
The Journal of Allergy and Clinical Immunology|June 14, 2019
A novel knock-in mouse model of cryopyrin-associated periodic syndromes with development of amyloidosis: Therapeutic efficacy of proton pump inhibitorsArinna Bertoni, Sonia Carta, Chiara Baldovini, et al.
Orphanet Journal of Rare Diseases|September 22, 2020
Guidelines for diagnosis and management of congenital central hypoventilation syndromeHa Trang, Martin Samuels, Isabella Ceccherini, et al.
European Journal of Human Genetics : EJHG|January 28, 2016
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstructionIvana Matera, Marta Rusmini, Yiran Guo, et al.
International Journal of Molecular Sciences|February 24, 2024
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the <i>SRSF4</i> GeneMaurizio Miano, Nadia Bertola, Alice Grossi, et al.
Orphanet Journal of Rare Diseases|November 26, 2013
A prospective observational study of associated anomalies in Hirschsprung's diseaseAlessio Pini Prato, Valentina Rossi, Manuela Mosconi, et al.
Clinical Immunology (Orlando, Fla.)|August 29, 2021
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD)Riccardo Papa, Marta Rusmini, Francesca Schena, et al.
European Journal of Human Genetics : EJHG|March 8, 2012
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung diseaseAnne-Sophie Jannot, Jeanne Amiel, Anna Pelet, et al.
Pageof 18