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The Journal of Trauma and Acute Care Surgery|June 10, 2017
Mortality after emergent trauma laparotomy: A multicenter, retrospective studyJohn A Harvin, Tom Maxim, Kenji Inaba, et al.
Brain : a Journal of Neurology|March 20, 2014
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcomePhilippa B Mills, Stephane S M Camuzeaux, Emma J Footitt, et al.
Nature Genetics|July 18, 2006
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusYanick J Crow, Bruce E Hayward, Rekha Parmar, et al.
Journal of Clinical Immunology|March 9, 2016
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyTracy A Briggs, Gillian I Rice, Navid Adib, et al.
Annals of Clinical and Translational Neurology|December 10, 2019
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrumMarisa I Mendes, Lydia M C Green, Enrico Bertini, et al.
American Journal of Human Genetics|March 7, 2020
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain CalcificationLucia V Schottlaender, Rosella Abeti, Zane Jaunmuktane, et al.
Science Immunology|December 15, 2019
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in <i>STAT2</i>Christopher J A Duncan, Benjamin J Thompson, Rui Chen, et al.
Nature|January 7, 2026
A young progenitor for the most common planetary systems in the GalaxyJohn H Livingston, Erik A Petigura, Trevor J David, et al.
Neuropediatrics|June 1, 2017
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological DiseaseGillian I Rice, Naoki Kitabayashi, Magalie Barth, et al.
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