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European Journal of Pediatrics|November 26, 2002
Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiencyAnnarosa Soresina, Vassilis Lougaris, Silvia Giliani, et al.
International Journal of Bioprinting|February 21, 2022
Aerosol Jet® Printing of Poly(3,4-Ethylenedioxythiophene): Poly(Styrenesulfonate) onto Micropatterned Substrates for Neural Cells In Vitro StimulationMiriam Seiti, Paola Serena Ginestra, Rosalba Monica Ferraro, et al.
European Journal of Medical Genetics|January 30, 2026
Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndromeAnna Insalaco, Cecilia Rossi, Emma Bertucci, et al.
Frontiers in Immunology|August 9, 2011
Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiencyFrancesca Rucci, Pietro Luigi Poliani, Stefano Caraffi, et al.
Stem Cell Research|December 4, 2019
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 geneGaetana Lanzi, Rosalba Monica Ferraro, Stefania Masneri, et al.
Molecular Genetics and Metabolism Reports|March 26, 2016
A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington diseaseMassimiliano Filosto, Gaetana Lanzi, Claudia Nesti, et al.
BMC Geriatrics|November 7, 2024
Older patients affected by COVID-19: investigating the existence of biological phenotypesAlberto Zucchelli, Marta Parigi, Silvia Giliani, et al.
Clinical Case Reports|August 3, 2023
Treatment response to Janus kinase inhibitor in a child affected by Aicardi-Goutières syndromeJessica Galli, Marco Cattalini, Erika Loi, et al.
The Journal of Allergy and Clinical Immunology|September 23, 2008
Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutationsFotini D Kavadas, Silvia Giliani, Yiping Gu, et al.
Clinical Immunology (Orlando, Fla.)|September 11, 2009
Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporterArturo Borzutzky, Brian Crompton, Anke K Bergmann, et al.
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