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Arthritis & Rheumatology (Hoboken, N.J.)|July 9, 2016
Brief Report: Vitamin D Deficiency Is Associated With Endothelial Dysfunction and Increases Type I Interferon Gene Expression in a Murine Model of Systemic Lupus ErythematosusJohn A Reynolds, Avi Z Rosenberg, Carolyne K Smith, et al.
Canadian Family Physician Medecin De Famille Canadien|January 29, 2011
Assessing the quality of care in family physicians' practicesA E Borgiel, J I Williams, G M Anderson, et al.
American Journal of Medical Genetics. Part A|October 17, 2008
Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulationV Navarro, C Scott, T A Briggs, et al.
Human Mutation|September 8, 2011
A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedemaAmy L Cilia La Corte, Angela M Carter, Gillian I Rice, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|August 26, 1998
Quality of life during and between hemodialysis treatments: role of L-carnitine supplementationR S Sloan, B Kastan, S I Rice, et al.
Clinical Genetics|April 26, 2020
Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literatureChiara De Luca, Yanick J Crow, Mathieu Rodero, et al.
Journal of Immunology (Baltimore, Md. : 1950)|February 13, 2015
Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndromePaul R Kasher, Emma M Jenkinson, Valérie Briolat, et al.
American Journal of Medical Genetics. Part A|August 28, 2010
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndromeCharlotte A Haaxma, Yanick J Crow, Maurice A M van Steensel, et al.
Cold Spring Harbor Molecular Case Studies|October 3, 2018
Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology caseGloria T Haskell, Mari Mori, Cynthia Powell, et al.
American Journal of Human Genetics|May 4, 2020
Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and CystsAndrew P Badrock, Carolina Uggenti, Ludivine Wacheul, et al.
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