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Proceedings of the National Academy of Sciences of the United States of America|May 19, 2010
Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndromeFabien Touzot, Isabelle Callebaut, Jean Soulier, et al.Blood|November 20, 2012
Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11Fernando E Sepulveda, Franck Debeurme, Gaël Ménasché, et al.Medecine Sciences : M/S|November 23, 2012
[Chronic granulomatous disease: pathogenesis and therapy of associated fungal infections]Anne Desjardins, Hélène Coignard-Biehler, Nizar Mahlaoui, et al.Human Mutation|January 29, 2003
Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosisJean-Claude Scimeca, Danielle Quincey, Hugues Parrinello, et al.Journal of the American Academy of Dermatology|June 28, 2011
Cutaneous findings in sporadic and familial autosomal dominant hyper-IgE syndrome: a retrospective, single-center study of 21 patients diagnosed using molecular analysisAmani Olaiwan, Marie-Olivia Chandesris, Sylvie Fraitag, et al.European Journal of Immunology|November 11, 2008
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH)Jana Pachlopnik Schmid, Chen-Hsuan Ho, Julien Diana, et al.The Journal of Experimental Medicine|June 22, 2005
B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracilBodil Kavli, Sonja Andersen, Marit Otterlei, et al.Journal of Immunology (Baltimore, Md. : 1950)|June 21, 2008
Human TCR alpha/beta+ CD4-CD8- double-negative T cells in patients with autoimmune lymphoproliferative syndrome express restricted Vbeta TCR diversity and are clonally related to CD8+ T cellsAnne Bristeau-Leprince, Véronique Mateo, Annick Lim, et al.The Journal of Allergy and Clinical Immunology|May 20, 2023
Pregnancy in primary immunodeficiency diseases: The PREPI studyElise Mallart, Ugo Françoise, Marine Driessen, et al.Molecular & Cellular Proteomics : MCP|July 22, 2014
Hippocampal extracellular matrix levels and stochasticity in synaptic protein expression increase with age and are associated with age-dependent cognitive declineMarlene J Végh, Antonio Rausell, Maarten Loos, et al.Pageof 44