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American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|April 19, 2021
Collapsing Glomerulopathy as a Complication of Type I Interferon-Mediated Glomerulopathy in a Patient With RNASEH2B-Related Aicardi-Goutières SyndromeParide Fenaroli, Giovanni M Rossi, Maria Lucia Angelotti, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 1, 2018
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma ElasticumMarta Bertamino, Mariasavina Severino, Alice Grossi, et al.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.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 GFAP Causing Adult-Onset Alexander DiseaseAndrea Ciammola, Davide Sangalli, Jenny Sassone, 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.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.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 TINF2 VariantBenedetta Chianucci, Alice Grossi, Gianluca Dell'Orso, et al.Pageof 5