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The Journal of Clinical Investigation|November 6, 2018
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficienciesPatrick Maffucci, Jose Chavez, Thomas J Jurkiw, et al.
Nature|October 14, 2014
Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammationXianqin Zhang, Dusan Bogunovic, Béatrice Payelle-Brogard, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 29, 2018
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysisPatrick Maffucci, Benedetta Bigio, Franck Rapaport, et al.
The Journal of Infectious Diseases|March 11, 2014
Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in MoroccoAyoub Sabri, Audrey V Grant, Kristel Cosker, et al.
La Tunisie Medicale|October 23, 2024
Phenotypes of 126 Moroccan HIES patients according to NIH ScoreIlham Fadil, Ibtihal Benhsaien, Jalila El Bakkouri, et al.
Human Molecular Genetics|June 22, 2019
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codonCarmen Oleaga-Quintas, Caroline Deswarte, Marcela Moncada-Vélez, et al.
Science (New York, N.Y.)|March 10, 2022
Citizen seismology helps decipher the 2021 Haiti earthquakeE Calais, S Symithe, T Monfret, et al.
Blood Advances|November 17, 2023
Oxygen gradient ektacytometry-derived biomarkers are associated with acute complications in sickle cell diseaseMinke A E Rab, Celeste K Kanne, Camille Boisson, et al.
Lancet (London, England)|July 5, 2022
Effectiveness of interventions to improve drinking water, sanitation, and handwashing with soap on risk of diarrhoeal disease in children in low-income and middle-income settings: a systematic review and meta-analysisJennyfer Wolf, Sydney Hubbard, Michael Brauer, et al.
Frontiers in Microbiology|April 29, 2017
Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface ExpressionThais Louvain de Souza, Regina C de Souza Campos Fernandes, Juliana Azevedo da Silva, et al.
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