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Proceedings of the National Academy of Sciences of the United States of America|June 4, 2014
Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cellsKerstin Felgentreff, Likun Du, Katja G Weinacht, et al.
The Journal of Experimental Medicine|January 11, 2012
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIPGaetana Lanzi, Daniele Moratto, Donatella Vairo, et al.
Sleep|June 9, 2025
Plasma NfL, GFAP, and pTau181 in patients with isolated REM sleep behavior disorderClaudio Liguori, Mariana Fernandes, Cinzia Zatti, et al.
The Journal of Experimental Medicine|April 12, 2012
Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virusUmaimainthan Palendira, Carol Low, Andrew I Bell, et al.
Medicine|December 30, 2018
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysisJessica Galli, Francesco Gavazzi, Micaela De Simone, et al.
Human Mutation|July 24, 2010
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiencyHong-Ying Wang, Vivek Gopalan, Ivona Aksentijevich, et al.
Journal of Clinical Medicine|October 21, 2020
Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of PatientsGiulio Tessarin, Stefano Rossi, Manuela Baronio, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 6, 2010
Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndromeFrancesca Rucci, Luigi D Notarangelo, Alex Fazeli, et al.
The Journal of Allergy and Clinical Immunology|December 2, 2024
Consensus of the Italian Primary Immunodeficiency Network on the use and interpretation of genetic testing for diagnosing inborn errors of immunityGiuliana Giardino, Gigliola Di Matteo, Silvia Giliani, et al.
Blood|June 16, 2016
Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficienciesPatrick M Brauer, Itai M Pessach, Erik Clarke, et al.
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