<i>EXTL3</i> mutations cause skeletal dysplasia, immune deficiency, and developmental delay
2017 · The Journal of Experimental Medicine · 83 citations
https://doi.org/10.1084/jem.20161525
A
Antonella Buoncompagni
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Antonella Buoncompagni is an academic researcher from Istituto Giannina Gaslini. The author has contributed to research in topics: Autoimmune and Inflammatory Disorders Research & Adolescent and Pediatric Healthcare & Rheumatoid Arthritis Research and Therapies. The author has an h-index of 36, co-authored 114 publications.
Papers by this author
worksRecurrent Pericarditis in Myhre Syndrome
2013 · American Journal of Medical Genetics Part A · 26 citations
https://doi.org/10.1002/ajmg.a.35892
Rapid and sustained effect of anti-TNF treatment in patients with ADA2 deficiency
2015 · Pediatric Rheumatology · 5 citations
https://doi.org/10.1186/1546-0096-13-s1-o80
Impact of involvement of individual joint groups on subdimensions of functional ability scales in juvenile idiopathic arthritis
2008 · Pediatric Rheumatology · 4 citations
https://doi.org/10.1186/1546-0096-6-s1-p116
Long-term efficacy of IL-1 blockers in PAPA patients
2015 · Pediatric Rheumatology · 3 citations
https://doi.org/10.1186/1546-0096-13-s1-p207
Long-term follow-up of systemic onset juvenile idiopathic arthritis patients treated with Anakinra
2011 · Pediatric Rheumatology · 1 citations
https://doi.org/10.1186/1546-0096-9-s1-p158
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