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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2017 | 1 |
2020 | 2 |
2024 | 0 |
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Page 1
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14.
Hum Mutat. 2020.
PMID: 31898846
Free PMC article.
Janus Kinase Inhibition in the Aicardi-Goutières Syndrome.
Vanderver A, Adang L, Gavazzi F, McDonald K, Helman G, Frank DB, Jaffe N, Yum SW, Collins A, Keller SR, Lebon P, Meritet JF, Rhee J, Takanohashi A, Armangue T, Ulrick N, Sherbini O, Koh J, Peer K, Besnier C, Scher C, Boyle K, Dubbs H, Kramer-Golinkoff J, Pizzino A, Woidill S, Shults J.
Vanderver A, et al.
N Engl J Med. 2020 Sep 3;383(10):986-989. doi: 10.1056/NEJMc2001362.
N Engl J Med. 2020.
PMID: 32877590
Free PMC article.
Clinical Trial.
No abstract available.
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Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.
Armangue T, Orsini JJ, Takanohashi A, Gavazzi F, Conant A, Ulrick N, Morrissey MA, Nahhas N, Helman G, Gordish-Dressman H, Orcesi S, Tonduti D, Stutterd C, van Haren K, Toro C, Iglesias AD, van der Knaap MS, Goldbach Mansky R, Moser AB, Jones RO, Vanderver A.
Armangue T, et al.
Mol Genet Metab. 2017 Nov;122(3):134-139. doi: 10.1016/j.ymgme.2017.07.006. Epub 2017 Jul 20.
Mol Genet Metab. 2017.
PMID: 28739201
Free PMC article.
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