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Frontiers in Immunology|April 17, 2024
Autoimmunity in thymic epithelial tumors: a not yet clarified pathologic paradigm associated with several unmet clinical needsMatteo Perrino, Emanuele Voulaz, Simone Balin, et al.
Neurology|September 2, 2018
The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathyElena Gardella, Carla Marini, Marina Trivisano, et al.
Nature Communications|July 6, 2026
Dipeptidyl peptidase 3 sets the threshold for immune activation and survival during experimental bacterial infectionAmanda Facoetti, Luca Lambroia, Elena Fontana, et al.
BMJ Open|June 18, 2016
Efficacy of ketamine in refractory convulsive status epilepticus in children: a protocol for a sequential design, multicentre, randomised, controlled, open-label, non-profit trial (KETASER01)Anna Rosati, Lucrezia Ilvento, Manuela L'Erario, et al.
Frontiers in Immunology|July 2, 2021
Thymic Epithelial Cell Alterations and Defective Thymopoiesis Lead to Central and Peripheral Tolerance Perturbation in MHCII DeficiencyFrancesca Ferrua, Ileana Bortolomai, Elena Fontana, et al.
Biochimica Et Biophysica Acta|April 19, 2011
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findingsAnna Caciotti, Scott C Garman, Yadilette Rivera-Colón, et al.
American Journal of Human Genetics|September 1, 2009
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and femalesRoberto Giorda, M Clara Bonaglia, Silvana Beri, et al.
Nature Genetics|April 23, 2013
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephalyKarine Poirier, Nicolas Lebrun, Loic Broix, et al.
The Journal of Allergy and Clinical Immunology|April 21, 2020
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndromeRosita Rigoni, Elena Fontana, Kerry Dobbs, et al.
Epilepsia|October 21, 2016
Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre studyMarilena Vecchi, Carmen Barba, Debora De Carlo, et al.
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