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Isabella Ceccherini

Showing results (151-160 of 180) with videos related to

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British Journal of Haematology|July 17, 2019
FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 geneMaurizio Miano, Enrico Cappelli, Agnese Pezzulla, et al.
Frontiers in Immunology|April 28, 2022
Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The "Fil Rouge" of Treg Between IPEX Features and Other Clinical Entities?Micaela Gentile, Maurizio Miano, Paola Terranova, et al.
European Journal of Immunology|July 25, 2020
Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patientsFrancesca Schena, Federica Penco, Stefano Volpi, et al.
Stem Cell Research|April 14, 2022
Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B geneAna Lucia Cuadros Gamboa, Roberta Benfante, Monica Nizzardo, et al.
Biomaterials Advances|March 9, 2023
Patient's dermal fibroblasts as disease markers for visceral myopathyFederica Viti, Francesca Micaela Pramotton, Michela Martufi, et al.
Journal of Clinical Immunology|November 16, 2021
Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis LocusAnnemarie Steiner, Thomas Reygaerts, Alessandra Pontillo, et al.
Developmental Biology|May 28, 2013
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a modelMaria M Alves, Yunia Sribudiani, Rutger W W Brouwer, et al.
Ebiomedicine|April 4, 2025
Multi-ancestry genome-wide association meta-analysis identifies novel associations and informs genetic risk prediction for Hirschsprung diseaseYuanxin Zhong, Man-Ting So, Zuyi Ma, et al.
Clinical Chemistry|March 17, 2020
ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing EraYael Shinar, Isabella Ceccherini, Dorota Rowczenio, et al.
Orphanet Journal of Rare Diseases|October 20, 2017
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registryRiccardo Papa, Matteo Doglio, Helen J Lachmann, et al.
Pageof 18

Showing results (151-160 of 180) with videos related to

Sort By:
Pageof 18
British Journal of Haematology|July 17, 2019
FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 geneMaurizio Miano, Enrico Cappelli, Agnese Pezzulla, et al.
Frontiers in Immunology|April 28, 2022
Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The "Fil Rouge" of Treg Between IPEX Features and Other Clinical Entities?Micaela Gentile, Maurizio Miano, Paola Terranova, et al.
European Journal of Immunology|July 25, 2020
Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patientsFrancesca Schena, Federica Penco, Stefano Volpi, et al.
Stem Cell Research|April 14, 2022
Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B geneAna Lucia Cuadros Gamboa, Roberta Benfante, Monica Nizzardo, et al.
Biomaterials Advances|March 9, 2023
Patient's dermal fibroblasts as disease markers for visceral myopathyFederica Viti, Francesca Micaela Pramotton, Michela Martufi, et al.
Journal of Clinical Immunology|November 16, 2021
Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis LocusAnnemarie Steiner, Thomas Reygaerts, Alessandra Pontillo, et al.
Developmental Biology|May 28, 2013
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a modelMaria M Alves, Yunia Sribudiani, Rutger W W Brouwer, et al.
Ebiomedicine|April 4, 2025
Multi-ancestry genome-wide association meta-analysis identifies novel associations and informs genetic risk prediction for Hirschsprung diseaseYuanxin Zhong, Man-Ting So, Zuyi Ma, et al.
Clinical Chemistry|March 17, 2020
ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing EraYael Shinar, Isabella Ceccherini, Dorota Rowczenio, et al.
Orphanet Journal of Rare Diseases|October 20, 2017
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registryRiccardo Papa, Matteo Doglio, Helen J Lachmann, et al.
Pageof 18