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Immunological Reviews|June 12, 2010
Inherited defects in lymphocyte cytotoxic activityJana Pachlopnik Schmid, Jana P Schmid, Marjorie Côte, et al.
Journal of Immunology (Baltimore, Md. : 1950)|January 18, 2012
Human MSH6 deficiency is associated with impaired antibody maturationPauline Gardès, Monique Forveille, Marie-Alexandra Alyanakian, et al.
Methods in Enzymology|February 28, 2012
Lentiviral hematopoietic cell gene therapy for X-linked adrenoleukodystrophyNathalie Cartier, Salima Hacein-Bey-Abina, Cynthia C Bartholomae, et al.
Retrovirology|May 19, 2015
Identification of potential HIV restriction factors by combining evolutionary genomic signatures with functional analysesPaul J McLaren, Ali Gawanbacht, Nitisha Pyndiah, et al.
The Journal of Clinical Investigation|August 19, 2014
A human immunodeficiency caused by mutations in the PIK3R1 geneMarie-Céline Deau, Lucie Heurtier, Pierre Frange, et al.
The Journal of Pediatrics|February 24, 2006
Omenn syndrome in an infant with IL7RA gene mutationSilvia Giliani, Carmen Bonfim, Genevieve de Saint Basile, et al.
Journal of Biomedical Informatics|July 30, 2017
Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stackNicolas Garcelon, Antoine Neuraz, Vincent Benoit, et al.
Haematologica|September 18, 2012
Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adultsOlivier Lambotte, Bénédicte Neven, Lionel Galicier, et al.
Nature Immunology|January 24, 2007
Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4Mickaël M Ménager, Gaël Ménasché, Maryse Romao, et al.
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