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American Journal of Medical Genetics. Part A|October 29, 2021
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsyBeatrice De Maria, Simona Balestrini, Davide Mei, et al.
Frontiers in Immunology|May 18, 2017
<i>In Vivo</i> Chronic Stimulation Unveils Autoreactive Potential of Wiskott-Aldrich Syndrome Protein-Deficient B CellsMaria Carmina Castiello, Francesca Pala, Lucia Sereni, et al.
Bone Reports|January 16, 2020
Generation of an immunodeficient mouse model of tcirg1-deficient autosomal recessive osteopetrosisEleonora Palagano, Sharon Muggeo, Laura Crisafulli, et al.
Frontiers in Immunology|June 18, 2021
Premature Senescence and Increased Oxidative Stress in the Thymus of Down Syndrome PatientsGenni Enza Marcovecchio, Francesca Ferrua, Elena Fontana, et al.
Frontiers in Endocrinology|September 24, 2024
Correction of osteopetrosis in the neonate <i>oc/oc</i> murine model after lentiviral vector gene therapy and non-genotoxic conditioningSara Penna, Alessandra Zecchillo, Martina Di Verniere, et al.
The Journal of Allergy and Clinical Immunology|December 16, 2017
Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulationValentina Capo, Maria Carmina Castiello, Elena Fontana, et al.
Epilepsia|January 29, 2011
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patientsFrancesca Ragona, Tiziana Granata, Bernardo Dalla Bernardina, et al.
Frontiers in Immunology|April 6, 2019
Thymic Epithelium Abnormalities in DiGeorge and Down Syndrome Patients Contribute to Dysregulation in T Cell DevelopmentGenni Enza Marcovecchio, Ileana Bortolomai, Francesca Ferrua, et al.
The Journal of Experimental Medicine|March 2, 2016
Intestinal microbiota sustains inflammation and autoimmunity induced by hypomorphic RAG defectsRosita Rigoni, Elena Fontana, Simone Guglielmetti, et al.
Stem Cells Translational Medicine|May 30, 2019
Gene Modification and Three-Dimensional Scaffolds as Novel Tools to Allow the Use of Postnatal Thymic Epithelial Cells for Thymus Regeneration ApproachesIleana Bortolomai, Monica Sandri, Elena Draghici, et al.
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